Figure Credits
Aarskog, D., Diagrams III, IV DeFraitcs, F., 427A Abrams, A., 4 7 5 DeMycr, W., 290, 340, Tables XVI-XX Agatston, H.J., 33 Dental Clinics of North America Allderdice, P.W., 177 475 19o27, 1975 American Journal of Diseases of Children(© AMA) Desnick, R.J., Diagram VII 151 105o588, 1963 Dieker, H., 328, 329 267 123o254, 1972 Dorst, J.P., 296, 298 455 107o49, 1964 Doyle, P.J., 319 American Journal of Human Genetics (U. of Chicago Press) Drescher, E., 272, 273 175 19o586, 1967 Drews, R., 53,54 177 20o500, 1969 Duhamel, B., 126 Annates de Genetique Durand, P., 268 169 !Oo221, 1967 Ea<;tman Kodak©, 109 170 7o17, 1964 F.lsahy, N.L, 150 Annales de Radiologic English, G.M., 318 453 16o19, 1973 Epstein, C.J., 496 Annates Paediatrici (Basel) Ev,ns, P.Y., 6, ll-13, 15, 17, 18, 22, 27, 28, 31, 32, 43, 45-47, 204 199o393, 1962 55, 59, 61, 65, 71, 75, 76, 92,95 Annals of Internal Medicine Excerpta Medica International Congress Series No. 55, Proc. XII 449-452 84(4)o393, 1976 Int. Cong. Derm. Archives of Dermatology (© AMA) 112 p.331,1962 295 101o669, 1970 Feingold, M., 67, 73, 74, 97, 207 Archives of Neurology (© AMA) Ferguson-Smith, M.A., 98, 493 8o318, 1963 143 Forsius, H., 444 Armstrong, H. B., 188 Franceschetti, A.T., 259-261 Aurbach, G.D., 433,434 Francke, U., 173 Ayerst Laboratory, 1, 7, 16, 25, 26, 29, 30, 33, 35, 36, 40 42, 52 Fran<;ois, J., 127 Baller, F., 208 Fraser, F.C., 24 7 Bannerman, R.M., 463 Fraser, G.R., 215 Bart, B.J., 246,425 (left), 501 Bartsocas, C.S., 391 Fraumeni, J.F., Jr., 288 Beaudet, A., Jr., 196 Frenkel, J.K., 265 Becker, P.E., 411 Fulginiti, V.A., 302 Beighton, P., 166,412,449-452 Gans, J.A., l Bergsma, D.R., 2, 3, 5, 8, 19-21 Georgetown University Medical Center, 6, 11-13, 15, 17, 18, 22, Bergstrom, L.V., 79, 93, 94, 96 27, 28, 31, 32, 43,45-47,55,59, 61, 65, 71, 75, 76, 92,95 Berman, P., 111 Georg Thiem Verlag Bianchine, J.W., 181, 248, 414,4 70 77,78 "Atlas and Otorhinolaringology and Broncheocsophagology" Bixler, D., 293,421,422 Gerber, P.H., 244 Borges, W., 106-108, Table XI German, J., 70 Bowen, P., 116,159,188, 256B Gier, R.E., 336, 337 Brown, A.C., 344-346 GObel, P., 465 Brown, K.S., 38 Goldberg, M.F., 309,397,454 Brown, R., 24 Goldstein, J.L., 292 Buckingham, R.A., 77, 78 Goodman, R.M., 120-122 Bulletin of The Johns Hopkins Hospital (©Johns Hopkins Press) Goodwin, B. (artist), 343 159, 256B 114A02, 1964 Gordon, H., 327 Buyse, M., 157, 252, 441 Gorlin, R.J., 128,255,278,283,291,325,326,-392, 393 (left), Carter, C.H., 214 402 Char, F., 174 Gray, B.H., 280 Chase, L.R., 144,145 Gutmann, L., 143 Clinical Genetics Hall, B.D., 284, 285, 388,488 160 5o294, 1974 Hall, J.G., 297,478,479 446 Sol, 1974 Harrison, R., 10 Coccaro, P.J., 286 Herrmann, J., 138,158, 193-195,289,310,311,357, 358,494, Cogan, D. G., 399 498, 499 Cohen, M.M., h., 134,137, !39, 147,189,190,192,206,210 Hoefnagel, R., 124, 136,417,418,427C 249-251, 270, 271, 287, 332, 386, 394, 400,401,405, 427B, Holder, T., 258 428,443,469,481,490 Holmes, L.B., 223 Confina Neurologica (Basel) Honig, G.R., Table XI 290 23o1, 1963 Horven, I., 320 Curth, H.O., 112 Houghton Mifflin Co., Boston Dallaire, L., 306 212,243 Winchester, A.M.: "Genetics: A Survey of the Principles Danks, D.M., 267 of Heredity," 1966 Debauchez, C., 170 Houston, F.M., 387 DeBlanc, G.D., 318 Howard, N., 262
1123 1124 Figure Credits
Imbrie, J.D., 319 Poznanski, A.K., 486,487 Imperato-McGinley, J., 435,436, Diagram II Preus, M., 152, 153, 160 Jinisek, J.E., 301 Pruzansky, S., 180 Joab, N., 169 Radiology Jorgenson, R.J., ll9A, 146,168,183,187,227,229,230,238, ll4 92o285, 1969 245, 307, 343, 356, 364, 375,416,474,484 Rahn, E.K., 64 Journal of Bone and Joint Surgery Reed, W.B., 254, 500 412 588:343, 1976 Reisner, S., 393 (right) Journal of Pediatrics Rimoin, D.L., 113,154,203,216-218,233,234,239-242,282, 278 56o778, 1960 300,432, Table XX! Kaufman, R.L., 144, 145,236,237 Robinow, M., 299, 363,447 Keene, H.J., 330 Rossier, A., 169 Kelly, T.E., 185,186,362 Rubinstein, J.H., 151 Kenyon, K.R., 367, 368 Rudd, N., 262 Keutel, J., 231 Ryan, T., 426 Knox, D., 255F Scheinberg, H.l., 57,58 Kolker, A., 39, 68, 275 Schimke, R.N., 155, 324,420 Kontras, S.B., 279 Scott, C.I., Jr., 281, 372, 373,423,424,459,460 Kopits, S.E., 431 Seigel, J.M., 274 Kowlesser, M., 129 Sharkey, R., 100, 171, 179, 312,440,448,480 Krill, A.E., 4, 60, 63 Shearer, R.V., 7 Lamy, M.E., 355 Sheehan, V., 172 Langer, L.O., Jr., 114 Siggers, D.S., 476,477 Lemli, L., 143 Silver, H., 455 Lousiana State University, Department of Ophthalmology, 41,42 Sly, S., 374 Lowry, R.B., 316, 317, 489 Smith, D.W., 178, 263, Diagrams VIII~X Manhattan Eye, Ear and Throat Hospital, 50, 56 Smith, G. F., 213 Masson et Cie, Paris Smith, M.E., 66 126 Duhamel, B.: "Morphogenese Pathologique," 1966 Sperling, M.A., 466,467,468, Diagram I Maumenee, A.E., 200,201 Spranger, J., 162,163,315,359,461,462,464 McGuire, W.P., 14 Sreebny, L., 482 McKusick, V.A., 115-118, 119B, 125,133,148,149, 167,181, 191, Stevenson, R., 36 197,199,202,209,211,221, 222A, 224-226,232,235,257, Stransky, E., 204 277,303-305,308,313,321,333-335,341,342,347,351-354, Sugar, H.S., 40 360, 361, 365, 366, 369-371, 379, 381-385, 390,404,408,413, Sugarman, G.l., 164 415,425 (right), 429,430,437,438,442,456,495, Table I Summitt, R.L., 140, 331, 348, 349, 389, 395, 396,457, 458A, Meskin, L., 90, 161 471A, 497 Messer, LB., 473 Suskind, R., 295 Miller, O.J., 175, 176 Temtamy, S.A., 131, 132, 148, 149, 403,439 Minas, T.F., 23 The National Foundation, 69, 182 Minerva Pediatrica Thomas, Charles C, Springfield, Ill. 268 19:2187, 1967 214 Carter, C. H.: "Handbook of Mental Retardation Syndromes," Morillo-Cucci, G.,184 2nd Ed., 1970 Nager, G.T., 110., 407 Touloukian, R., 135 National Eye Institute, 2, 3, 5 Townes, P.L., 228 National Institute of Dental Research, 38 Tucker, A., 141 National Institutes of Health, 24, 34, 44, 49, 51, 62 Tulane University School of Medicine, 25, 26 Neuhauser, E.D.B., 314 Vachier, E., 446 Neurology(© The New York Times Media Co., Inc.) Van Mierop, L.H., 142,419 340 17o961, 1967 Via, W.F., Jr., 253 Nichols, B.L., 198 Visekul, C., 165 Nyhan, W., Tables II-X Walton, J.N., 380 Okun, E., 37 Warburg, M., 222B, 264, 266 Opitz, J.M., 256A&C, 269, 294, 338, 339, 458B, 4 71B Weilbacher, S. (artist), 255F Oral Surgery, Oral Medicine and Oral Pathology Weyers, H., 123 330 17:683,1964 Wilkins, L., Diagrams V, VI 472 18:409, 1964 Williams & Wilkins Co., Baltimore Pallister, P.D., 409,410 265 Frenkel, J.K.: Toxoplasmosis. In Marcial-Rojas, M.A. (ed.): Passarge, E., 156, 45 3 "Pathology of Protozoal and Helminthic Diseases," 1971, Passmore, J.W., 16 pp 254-290 Patterson, J.H., 322, 323 Wills Eye Hospital, 29, 30, 35 Pearlman, J.T., 52 Wilson, M.G. 491,492 Pearson, C.M., 376-378 Winchester, A.M., 212, 243 Pediatrics Witkop, C.J., Jr., 48, 72,80-91,99, 101-105, 130,219,220,276, 288 40o886, 1967 398,406,472,483,485, Tables XII-XIV 468 48o756, 1971 Wood, B.P., 350 Pergamon Press Ltd., Oxford Woolf, C.M., Table XV 390 McKusick, V.A.: "Medical Genetics," 1961-1963 Year Book Medical Publishers, Inc., Chicago Perlman, A., 414 258 Holder, T.M. et al: Esophageal atresia and tracheo-esophageal Pfeiffer, R., 205 fistula. In Ravitch, M.M. (ed.): "Current Problems in Surgery" Phelps, C., 34 © 1966 Pillary, V.K., 445 Young, L.W., 350 Plastic and Reconstructive Surgery Zeitschrift ftir menschliche Vererbungs- und Konstitutionslehre 150 48o542, 1971 208 29o782, 1950 Podos, S.M., 9 Zeligman, 1., 387 Author Index
Aarskog, D., 1 Blass, J.P., 697, 850,851 Abele, D.C., 416 Blizzard, R.M., 435 Aberfeld, D.C., ISS Bloomer, W.E., 611 Abrams, A.M., 937 Bodenhoff, J., 933 Acquarelli, M.J ., 797 BOOk, J .A., 493 Aebi, H., 6 Borges, W.H., 886, 939 Aleck, K., 672, 680,782 Bourland, B.J., 766 Alford, C.A., Jr., 385 Bowen, P., 179 Allderdice, P.W., 167 Breg, W.R., 163 AlstrOm, C.H., 41 Bucciarelli, R.L., 83, 922 Ammann, A.J., 729 Buyse, M., 578 Anast, C.S., 499,514,515,873 Calcaterra, T.C., 918 Arcilla, R.A., 53,979 Caplan, R.M., 599 Arias, LM., 487,961 Carter, C.O., 423 Armstrong, H.B., 179 Carter, V.H., 561 Ashcraft, K.W., 363,364,366,367,368, Cassidy, S.B., 157 369,471 <;ederbaum, S.D., 86,697,850,851 Austin, J.H., 651 Cervenka, J., 177, 319,596, Aziz, K.U., 581 Christian, J .C., 505 Baird, H.W., 393 Clatworthy, H.W., Jr., 110, 149,404,463,464, Barness, L.A., 485 465,466,467,468,604,605,606 Barnhart, R.A., 70 Clawson, C.C., 143 Barrett, J.L., 551 Clendenning, W.E., 101 Bart, B.J., 608,609 Cleve, H., 446 Bart, R.S., 558 Cline, J.T., 340,739,927,929,930, Bartoshesky, L.E., 895 931,932 Beighton, P., 233,507 Cogan, D., 191 Bennhold, H., 47 Cohen, M.M., Jr., 28, 55, 104, 111,182, Bergren, W .R., 152, 403 337,375,595,618,626,627,636 Bergsma, D.R., 43, 59, 130,201,234,356, Cohen, M.M., Sr., 594, 806 371,400,479,504, 548,563,565, Comings, D.E., 31,827 623,705,740,750,751,752,753, Cooper, L.Z., 384 834, 844, 869,925,983 Cortner, J.A., 624,625 Bergstrom, L., 70, 97,232,247,272,273, Crawhall, J.C., 106,921 312,313,314,315,316,317,318, Cremers, C.W.R.J., 12, 72, 89, 183,206, 320, 321, 324, 325, 326, 327, 328, 250,253,255, 258,261,262,263, 329, 330, 331, 377, 378,448,450, 265,268,275,506,592, 732, 759, 508, 530, 562,601, 619,664, 724, 785,863 787' 799, 945 Crocker, A. C., 598, 717, 1003 Berman, M.A., 665, 666, 669,969,970 Cross, H.E., 32, 57, 58, 131, 132, 133,413, Bernstein, J.M., 248 583, 584, 585, 733, 845 Bieber, F.R., 266 Cunningham-Rundles, C., 525 Bingol, N., 518, 859 Curth, H.O., 5, 105,526, 703 Bishop, H. C., 288 Dahlberg, A.A., 607 Black, J .A., 305 Dancis, J., 509, 54 7, 628 Blackfield, H.M., 374 Davidson, M., 566, 567, 920 Blaine, R.W., 890 Davidson, R.G., 624, 625 Bland, J .H., 792 DeBusk, F., 825
1125 1126 Author Index
DeGroot, L.J ., 251 Giammona, S.T., 237 Dennis, N.R., 423 Giblett, E.R., 452 Derlacki, E.L., 150 Gier, R.E., 631 Desnick, R.J., 373 Gilbert, E.F., 187 DeWind, L.T., 257 Gittinger, J.W., 152 Diamond, L.K., 4, 51,420,461,462, 852, Gitzelmann, R., 357, 396, 402 996 Goldberg, M.F., 18, 205, 207, 208, 209, Diamond, L.S., 874 210, 211, 212, 213, 214, 215, Dolowitz, D.A., 267,269,708 216, 282, 309, 552, 553, 637, 868 Donnell, G.N., 152,403 Goltz, R., 281 Downs, M.P., 271 Good, R.A., 27, 94, 143,521,525 Doyle, P.J., 577 Goodman, R.M., 615 :j:Drescher, E., 411 Goodman, S.l., 421,422 Durand, P., 569 Goodman, T.F., Jr., 416 Duvall, A.J., III, 919 Goodman, W.S., 722 Edwards, J .E., 82 Gorlin, R.J., 176,440,586, 730, 737, Eldjam, L., 849 770,786 Elliott, L.P., 286,541,962,968 Graham, T.P., Jr., 64, 217, 218,219 Ellis, E.F ., 92, 240 Grosfeld, J.L., 110, 149,404,463,464, Ellsworth, R.M., 620,721, 756,757,867, 465,466, 467,468, 604,605,606 870, 871, 872 Guerrero, J .R., 200, 527 E1sahy, N.J., 118 Guggenheim, P., 706 Engel, E., 157 Gupta, S., 54, 944 English, G.M., 117,283,573,575, 726 Hagan, P.J., 708 Erich, J.B., 725 Halasz, N.A., 612 Escher, F., 244 Hall, J.G., 85, 88, 226,231, 389, 555, 828, Eskritt, N.R., 65, 66 900,941,967 Esterly, J.R., 614 Hanson, J.W., 382, 388 Evans, D.A.P., 7 Hardcastle, B., 727 Ewing, J.A., 741 Haslam, R.H.A., 103, 135,295, 376, 712, Falls, H.F., 136, 195, 196, 197,198, 924, 964, 975, 995 199,865 Hastings, N., 532 Favara, B.E., 990 Hatch, F.T., 489,488,495,496,500,501 Feingold, M., 457, 735,997 Hawkins, I.F., Jr., 968 Feinmesser, M., 252 Hays, D.M., 531 Fenton, R.S., 722 Hayward, J.R., 61 Ferguson-Smith, M.A., 359 Hecht, F., 160, 165, 166,168 Fineman, R.M., 665 Hellenbrand, W.E., 665, 666,669, 969,970 Fisher, D.A., 946,950 Herrmann, J., 138,451,470,554,791, Fitch, N., 629 875,981, 1001 Folger, G.M., Jr., 348, 349, 353, 354 llildyard, V.H., 530 Fonkalsrud, E.W., 300,888 Hillman, R.E., 40 Fox, S.A., 296 Hintz, R.L., 473 Francke, U., 161, 162 Hognestad, S., 246 Fraser, D., 516 Holder, T.M., 363, 364, 365,366,367,368, Fraser, F.C., 334 369, 471,960 Fraser, G.R., 123,249,550 Holinger, P.H., 572,576 Fraumeni, J.F., Jr., 458 Hollister, D.W., 16, 21, 128, 129, 346, 390, Fredrickson, D.S., 48 391,641,779,780,847,898, 1000 Freeman, J.M.,137, 344,643 Holmes, L.B., 285 Frichot, B.C., III, 56 Hong, R., 523 Friedman, W.F., 78, 80, 81,108,916,917 Honig, G.R., 886,939 Frimpter, G.W., 236 Horton, W.A., 8, 9, 26, 303, 304, 336, 338, Froesch, E.R., 395 345,438,447, 777,853, 901, 949 Hudson, C.D., 225,511 Gaethe, G., 811 Hussels-Maumenee, 1., 90,621,893 Gans, S.L., 545 Gardner, D.W., 499,514,515,873 Ickenroth, A.M., 12, 206, 255, 268, 506, Gatti, R.A., 524 592,732, 759 Gebhart, R.N., 797 Imbrie, D., 577 Gentry, W.C., Jr., 259,412 Jacobs, K.F ., 444, 448, 955 German, J.L., III, 112 Jellum, E., 849 Gerritsen, T., 503 Jirasek, J.E., 181, 790 Gessner, LH., 286, 297, 298 Johnson, C.C., 958, 959 Ghadimi, H., 472, 616 Johnson, D.G., 289, 365,960
:t:Deceased Author Index 1127
Johnson, W.C., 144 Mikhail, G.R., 819 Johnson, W.J., 708 Miller, B.L., 286,454, 610,922, 1002 Johnston, P.W., 633 Miller, D.R., 370,723,724,787,878 Jones, K.L., 190, 379,987 Miller, M.E., 812 Jorgenson, R.J., 102, 613, 738 Miller, O.J., 158, 159, 169, 170, 171, Joseph, H.L., 789 172,242 Juberg, R.C., 769 Miller, R.H., 335, 582 Kaitila, 1.1., 19, 20,646,647,648,649 Miller, R.W., 383 Kalmus, H., 809 Miller, S.H., 374 Katz, H.I., 993 Mininberg, D.T., 518 Kay, D., 117 Mohandas, N., 2 Kean, B.H., 387 Moller, J.H., 109,731,836,837,838, Keene, H.J., 607 839,840 Keyes, G.G., 17, 146 Morris, M.E., 280 Kimball, A.C., 387 Morrow,G.,III,87, 174 Kirkpatrick, S.E., 78, 80, 81, 108, Moynahan, E.J ., 670 916,917 Muckle, T.J., 982 Kitano, Y., 411 Muller, S.A., 38,99 Koerper, M.A., 4, 461,462,996 Mullins, C. E., 63, 74, 200, 527, 546 Kogut, M.D., 397 Murken, R.E., 919 Kohlschtitter, A., 44 Nance, W.E., 266 Kohut, R.I., 274 Neblett, L.M., 251,571 :j:Konigsmark, B.W., 245,256,270, 742, Neuhauser, G., 93,227,632,638,783,963 743, 744, 745,746,747 Newell, R.C., 127 Kozlowski, K.S., 652, 653, 654,655,899 Nichols, B.L., 202 :j:Krill, A.E., 43,400,479,622, 719, Nora, A. H., 805,835 734, 740, 869,925,983 Nora, J.J., 75, 77,805,835 Krugman, S., 384 Narum, R.A., 301,477,630,774,854 Lachman, R.S., 122, 308, 310, 345, Nyhan, W.L., 37,441,492,588,658, 557, 650 772, 808, 826 L.O., Jr., 10,510,940,966 Langer, Obenshain, S.S., 513 Lapointe, N., 943 O'Brien, J.S., 431,432 Lauren, C.-B., 39 Opitz, J.M., 22, 121, 401,556,603 Leadholm, B.C., 313 634,754 Lees, R.S., 488 O'Reilly, R.J., 522,523, 524 Levin, L.S., 613, 784 Orti, E., 42,815 Levy, R.I., 495 Owsley, J.Q., Jr., 374 Lichtenstein, J.R., 311,685,777, Pahwa, S., 943 778, 781 Patrick, A.D., 422 Linde, L.M., 73,96 Paul, M.H., 581 Lucas, R.V., Jr., 204,528,807, Pearson, C.M., 11, 116, 124, 125, 134, 841,842 686,687,688,689,690,691,692, McCarter, T.J., 276 694,695, 696,698, 700,701,702, McCrory, W.M., 708,710 794, 795, 796 McGee, B.J., 157 Perry, T.L., 126,474 McKhann, G.M., 115, 307, 415,433,434, Pfandler, U., 243 478,713,803,957 Pfeiffer, R.A., 544 McKibben, D.H., Jr., 340,927,928,932 Philippart, M., 398, 406 McKusick, V.A., 156,832, 881 Pickett, L.K., 62,405,529,545,645, 748 McNamara, D.G., 63, 74, 76,200,527, Pillay, V.K., 749 546, 766 Podos, S.M., 736 Magenis, E., 168 Polgar, G., 802 Marden, P.M., 593, 629 Posner, P., 610 Maroteaux, P., 91, 358,497 Preus, M., 140 Marriott, H.J .L., 454, 922 :j:PuretiC, B., 644 Masuda, Y., 141 PuretiC, S., 644 Medansky, R.S., 589 Qazi, Q.H., 42,815 Mehregan, A.H., 339 Mengel, M.C., 254 Rahn, E.K., 3, 60, 67, 84,355,372,475, Mentzer, W.C., Jr., 420,852 661, 662, 663,699,718, 758,889 Meskin, L.,184, 617 Rao, S.R., 291, 660,843,936 Messer, L.B., 340,739,927,928, Reaven, G.M., 495, 500,501 929,930,931,932 Redman, R.S., 417,954 Meyer, I., 760 tReed, W.B., 30,333, 1004, 1005
:t:Deceased :j:Deceased 1128 Author Index
Refetoff, S., 257 Sperling, M.A., 23, 24, 25, 100, 222,484, Reichel, W., 998 590,829,902,903, 904,905, 906, Rice, J.S., 113 907, 908, 909 Riemenschneider, T .A., 7 3 Spranger, J.W., 153, 154, 224, 228, 306, Rimoin, D.L., 10, 16, 21, 26, 122, 128, 129,302 394,656, 671, 776, 798,880, 303, 304, 308, 310,390, 391,438, 883, 884, 897 447,498,510,557,641,650,771, Steinberg, A.G., 71,476 779, 780,788,847,896,898,940, Steinberg, D., 810 949,966 Stenmark, S., 990 Riopel, D.A., 767, 768 Stevenson, R.E., 674,675,676,677,678, Robinow, M., 876 679,980 Ro5enbcrg, L.E., 148,239,287,419,490, Stewart, J .M., 264, 450, 667, 860 858,861,862,892,992 Stokke, 0., 849 Rowe, N.H., 711 Stone, O.J ., 559 Rubinstein, J.H., 119 Strauss, L., 942 Saddi, R., 460 Sugar, J., 205,207,208,209,210,211,212, Sage I, I., 859, 213,214,215,216,552,553,637,868 Sando, I., 141 Suhr, M.P., 152 Sauk, J.A., Jr., 711 Summitt, R.L., 49, 50, 189,587, 720, 831, Schapira, G., 460 855,977 Scheinberg, l.H., 469 Sutton, H.E., 95 Schieble,, G.L., 83, 332,540, 541,988 Sveger, T ., 39 Schimke, R.N., 350, 351,352 Sweetman, L., 107 Schneider, J.A., 238 Swinyard, C.A., 386 Schulman, J.D., 422 Talner, N.S., 665,666,669,969,970 Schwartz, R., 513 Temtamy, S.A., 13, 14, 114,813,814, Schwartz, S.A., 94 817,923 Scott, C.!., h., 98, 185, 290, 293,445, Teree, T.M., 424 560, 570, 673, 775, 846 Teter, D.L., 951 Scriver, C.R., 294,418, 453,482,486, Thorne, E.G., 600 491,502,516, 517, 520, 657, 736, Tocci, P.M., 519 830, 864, 974, 991 Toomey, K., 346 Sedano, H.O., 17,223, 494, 818 Touloukian, R.J., 69, 192, 193, 194,535, Selmanowitz, V.J., 715 877 Shapim, L.J., 672,680, 782 Touster, 0., 804 Shear, C.S., 978 Trodahl, J.N., 821 Shibuya, M., 709, 856, 857 Tschudy, D.P., 203, 362,820,821,822 Shinefield, H.R., 381 Uitto, J., 777 Shohet, S.B., 2 Ulstrom, R.A., 104,512 Shulman, K., 52, 186, 188,220,230,292, 343,480,481,602, 642, 659, Vandersteen, P.R., 361 693, 712,894, 915 Van Doren Hough, J., 773 Sidbury, J.B., Jr., 425,426,427,428, Van Mierop, L.H.S., 92,332, 347,541,816 429,430 Vargo, T.A., 546 Siebe<, W.K., 848,910,911,912,913,914 Via, W.F., Jr., 342 Siggers, D.C., 392, 455,459, 704, 882, 976 Vickers, R.A., 360 Silver, H.K., 887 Victorica, B.E., 668, 800, 972 Silverman, F.N., 221 Wadlington, W.B., 147 Simell, O.G., 148, 491 Waldmann, T.A., 534 Simpson, J .,385 Waldron, C.A., 539 Simpson, J.L., 29, 50, 68, 173,436,437, Walker, P.O., 929,931 483,682, 683,684, 831, 855, 971, Wallman, I.S., 341 984,985 Wara, D.W., 729 Singer, W., 895 Warburton, D., 164 Singleton, G.T., 727 Ward, P.H., 260 Sloan, H.R., 151,580 Warkany, J., 380 Smith, D.W., 891,999 Wasserman, E., 518, 859 Smith, M.E., 284,414,439,564,579,591, Watson, D.G., 79 639,640,716,755,761,762,763, Watson, W., 833 764, 765,866,994 Way, G.L., 75,77 Smith, R.O., h., 574,707,824 Weil, W.B., Jr., 549 Smithwick, E.M., 442, 443,714 Weinberg, B., 952 Snyderman, S., 628 Wells, B.T., 15 Spach, M.S., 938,989 Weyler, W., Jr., 107 Author Index 1129
White, J.G., 33 Wolf, M.L, 43, 399, 400,449, 479,622, Whitington, P.F., 533,597, 793, 885,973 719, 734, 740,869,983 Wildervanck, L.S., 142 Wood, R.P., II, 145, 235,536, 728 Williams, R.L., 76 Woolley, M.M., 537 Wilroy, R.S., Jr., 299, 635,986 Worth, H.M., 965 Wilson, C.J., 456 Wyandt, H. E., 165, 166 Winchester, A.M., 241, 322,323 Wyss, S.R., 6 Witkop, C.J., Jr., 33, 34, 35, 36, 44, 45, Zelkowitz, P.S., 120,801,879 46, 118, 178, 180,229,277,278, Zellweger, R, 139,823 279,280,407,408,409, 410,411, Zinkham, W.H., 568 412, 413, 511, 538,660,681, 784, Zonana, J., 175, 302, 542,543,947,948 843, 926, 934, 935, 937, 953, 956,965 Index
A anus, 69, 72,160,167,329,364,401, hair on torso and limb at birth, 670 544,574,578,634,727, 754,884, hair, pubic, 437, 903 AARSKOG SYNDROME, I 885, 960, 987 half-nose, 722 Abdomen auditory meatus, 225, 506 hallux, 875 distention of, 9, 10, 27, 54,148,192, auditory meatus, unilateral, 457, 735 hand, 451 194, 240, 365, 403, 406, 425, 426, beard, 438, 855 humerus, 875, 941 532,566,567,569,597,884,900, brain, 283, 380 hyoid bone, 28, 952 946, 960, 978 breasts, 42, 93 incus, 592,664, 860 distention of in neonatal period, 193, calvaria, 634 internal auditory meatus, 562 531, 566,567,569 caruncle, 130 interphalangeal flexion creases of mass in, 149, 194, 240, 532, 604, 605, carpal bones, 455, 981 finger, 89, 160 645, 848, 912, 914, 988 cerebral cortex, 480 iridal pattern, 205 scaphoid, 289 cerebrum, 727 iris, 57, 281, 284 scaphoid lower, 910 choroid, at birth, 986 kidney, hila teral, 856, 860 Abdominal pain or tenderness, 54, 203, 240, clavicle, 185 kidney, unilateral, 337,603,634,682, 265,420,469, 495,534, 549, 566, color vision, total, 198, 253, 755 857, 860 567,569,645,684,820,822, 886, corneal endothelium, 140 labia majora, 88, 818 892, 903 corpus callosum, 157, 158, 161, 220, 227, labia minora, 823 Abdominal wall 473, 578, 635, 754 labyrinth of inner ear, 562 defect of, I 04, I 93, 335, 405, 46 7, 671, dental pulp chamber, 277, 278, 280 lacrimal canaliculus, complete or in- 748 deep tendon reflexes, 2, 139,307,628, complete, 563 spasm of, 489 629, 743, 750,759, 810, 850, 895 lacrimal punctum, 337,371, 563 Abducens deep tendon reflexes in ankle or knee, lateral nasal wall, 824 decreased function, 1 88 265 left or both aortic fourth arches, 76 paralysis, 376 deep tendon reflexes in lower limb, lenticular process of incus, 24 7 Abduzensparcse, 889 693, 746 light reflex in retinal blood vessels, 34, 35 Aberfeld syndrome, 155 deep tendon reflexes in upper limb, liver, 463 Aberrant bronchus, 611 924 lower limb, 451 Aberrant hepatic arterial supply, 464 ear, 457,664 lower lip sulcus, 17 Aberrant lacrimal gland, 564 earlobe, 162, 320, 323, 326 lunula, 362 Aberrant left pulmonary artery, 766 eparterial bronchus, 816 lymphatic vessels, 615 Aberrant lobe of lung, 611 epididymus, 49, 855 lymph nodes, 522, 524 Aberrant right ventricular muscle bands, ethmoid sinus, 723, 797 mammary gland, 981 731 extensor pollicis brevis, 175 mandible, 28,312 ABETALIPOPROTEINEMIA, 2 extensor pollicis longis, 175 mandibular central incisor, 17, 771, 791 Abgang des Pulmonalartcrie von Ductus eyeball, 67, 168,281,634,662, 735, 824 mandibular lateral incisor, 17,291,770, Botalli, 768 eyebrow, 3, 623, 670 791 Abiotrophic ophthalmoplegia externa, 752 eyebrow, focally without scarring, 38 maxillary central incisor, 771, 791 Abiotrophies of inner ear, 315 eyebrow, lateral 3rd of, 105 maxillary lateral incisor, 177, 229, 291, Ablatio falciform is congenita, 86 7 eyelash, complete, 3, 623 770, 791, 934 Ablepharie, 3 eyelash, focally without scarring, 38 maxillary sinus, 723, 735, 797 ABLEPHARON, 3 eyelash, medial to cleft, 627 meibomian glands, 296 Abnormal facies, myopia and short stature, eye lens, 84 metacarpal, 459, 592, 875 261 eyelid, 3 metacarpals of ulnar digits, 981 ABNORMAL FIBRINOGENS, 4 fallopian tube, 49, 50, 682 metatarsal, 875 Abrikossoff tumor, 360 fallopian tube, unilateral, 173 molar, 3rd, 934 Absence congCnitale de beta-lipoprott~ines, femur, 451,875 motion of toe, 114 2 fenestra cochleae, 664 moustache, 105 Absence congtSnitale de valvules pulmonaires, fenestra, vestibuli, 592 mouth, 28 836 fibula, 875 mtillerian derivatives, 49, 68 Absence de dermatoglyphes, 393 fingernail, at birth, 409 nail, 65, 66, 262, 281, 409, 511, 609, Absence de phagocytose, 812 finger, 5th, 875 704, 821' 880 Absence de transftSrrine, 95 fingers, all except one, 336 nail, at birth, 409,511 Absence defect of limbs, scalp and skull, fingers, one or more, 65, 242, 281, 336, nail, part of, 65, 66 459 337,451,459,592,700,813,818 nails, totally, 65 Absence des conduits lacrymaux, 705 foot, 451 nasal bones, 261 Absence du lobe de l'oreille, 320 forearm, 451 nasal septum, 727 Absence du segment hepatiquc de Ia veine frontal sinus, 797 nipple, unilateral, 42 cave infeneurc, 528 fungiform papilla on tongue, 307 nipples, 981 Absence du tragus, 312 gallbladder, 401, 404 nose, 234, 722 Absence of great toe, 875 nose, tip of, 635 anal sphincter, voluntary control of, 693 gyri of brain, 139, 578, 603 olfactory lobe, 634 anterior axillary skin fold, 813 hair, axillary, 43 7, 903 oocytes in gonad, 173 annulus tympanicus, 97 hair, lanugo or downy, 105 oropharyngeal lymphoid patches, 522
1130 Index 1131 ovary, 29 ulnar ray structure, 981 Acrocefalosindactilia, 14 paranasal sinus, 723, 735, 797 upper limb, 451, 875 ACROCEPHALOPOLYSYNDACTYLY, 13 parathyroid, SIS usual lymph nodes, 522, 524 ACROCEPHALOSYNDACTYLY, 14 patella, 157, 704 uterine cervix, 49, 682 Acrocephalosyndactyly, Herrmann-Opitz pectoralis major, 4SS uterine corpus, 682 type, 14 penis, 876 uterine horn, 684 Acrocephalosyndactyly, Summitt type, 14 petrous p'ortion of temporal bone, 562 uterus, 49, SO, 908 Acrocephalosyndactyly, Waardenburg type, phalanges, middle of toes, 413, 737 uveal pigment, 143 14 phalanges of ulnar digits, 98I vagina, upper part, 682 ACRODERMATITIS ENTEROPATHICA, phalanx, distal, of finger, 21, 114, IOOI vas deferens, 49, 8SS IS phalanx, distal, of toes, 21, 846, I 001 voice, 572, 574, 575, 577 ACRODYSOSTOSIS, 16 phalanx of finger, one or more, 65, 242, vulva, 908, 909, 971 Acrodysplasia with exostoses, 967 281' 336, 337, 451, 459, 692, 700, yellow pigment in retinal macula, 32 ACROF ACIAL DYSOSTOSIS, 17 813,818 zonules of eye lens, 584 Acromegalie avec cutis verticis gyrata et phalanx of 2nd toe, 22 Absent atrial septum, 96 leucome de la cornee, 18 phalanx of 5th finger, 262, 875, 923 Absent fingerprints, 393 ACROMEGALOID PHENOTYPE, CUTIS phalanx of 5th toe, 262 Absent hepatic segment of inferior vena VERTICIS AND GYRATA• philtrum, I62, 395,401,473 cava, 528 CORNEAL LEUKOMA, 18 pigment in retina, 32, 34 Absent inferior vena cava, 528 Acromegaloider Habitus-Cutis verticis gyrata premolar teeth, 493, 784, 934 Absent pulmonary valve, 836 und Hornhaut-Leukom, 18 primitive reflexes, 139, 628, 940 Acalasia esofigica, 363 ACROMESOMELIC DYSPLASIA, prostate, 908 Acanthocytosis, 2 CAMPAJLLA-MARTINELLI TYPE, pupillary reflexes, 721, 865 ACANTHOSIS NIGRICANS, 5 19 radius, 160, 168, 231,592, 8S3, 875, 941, ACATALASEMIA, 6 ACROMESOMELIC DYSPLASIA, 987 Acatalasemia Type I (Japanese variant of MAROTEAUX TYPE, 20 retinal pigment, 32, 34 low specific activity), 6 ACRO-OSTEOL YSE, DOMIN ANT TYPE, salivary gland, 627,664 Acatalasemia Type II (Swiss variant of low 21 scalp hair, 13, 153, 154, 526, 623, 703, stability), 6 Acroosteolysis without neuropathy, 21 738, 770, 825, 998 Acatalasia, 6 ACROPECTOROVERTEBRAL DYSPLASIA, scalp hair, focal at birth, 608 Accelerated AV conduction, 1002 22 scalp hair, total, acquired, IS Accessory hepatic lobes, 467 Acylcholine acyl-hydrolase EC 3.1.1.8., scalp hair with scarring, 179 Accessory lung arising from bronchial tree, 152 scalp hair without scarring, 259 esophagus, or stomach, 611 Adducted thumbs, 175 scrotum, 818 ACETYLATOR POLYMORPHISM (MARKER), Adenolipomatosis, 601 semicircular canals, 142 7 Adenoma, hereditary pleiomorphic seminal vesicles, 49, 855 Achalasie, 363 salivary, 878 sensation in finger or toe, 265 Achalasie oesophagienne, 363 Adenoma sebaceum, seizures and mental sexual characteristics, secondary, 29, Achondrogenese type I, 9 retardation, 975 68, I 05, 438, 902, 903 Achondrogenesc type II, 8 Adiposidad-hipertermia-oligomenorrea y skin, multiple areas, 281 ACHONDROGENESJS, LANGER-SALDINO tumefacci6n de Ia par6tida, 730 skin creases of joints, 88, 4 70 TYPE, 8 Adolescent or young adult renal tubular skin on lower limb at birth, 609 ACHONDROGENESJS, PARENTI- acidosis and slowly progressive speech, 103,562, 732 FRACCARO TYPE, 9 sensorineural deafness, 863 sphenoid sinus, 797 ACHONDROPLASIA, 10 Adrenal gland, defect of, 181, 502 spleen, 606, 727 Achromatism, 198 Adrenal hyperplasia, congenital: 17a• stapedius reflex, 377 Acluomatopsia with amblyopia, 198 hydroxylase deficiency, 903 stapedius reflex ipsilateral to palsy, Achromia, primary, 993 Adrenal hyperplasia, congenital: 3.B• 378 ACID MALTASE DEFICIENCY, II hydroxysteroid dehydrogenase de• stapes, 592 Acid6mia metilmalOnica, 658 ficiency, 909 sulci of brain, 603 Acidemie isovalCrique, 547 Adrenal hyperplasia, congenital: 11.8- sweating, 33, 986 Acidemie methylmalonurique, 658 hydroxylase deficiency, 902 sweating, axillary, 981 Acidemie pyroglutamique, 849 Adrenal hyperplasia, congenital: 20-22 sweating on lower limb, 984 Acidose renale, 862 desmolase deficiency, 907 teeth, one or more, 6, lOS, 178, 179, Acidose renale tubulaire ct surdite neuro- Adrenal hyperplasia, congenital: 21- 183, 333, 337, 439, 440,451, 511, sensorielle, 863 hydroxylase deficiency, 908 738, 930, 965, 999 Acidosis renal tubular (distal), 862 ADRENAL HYPOAWOSTERONJSM OF testicular enlargement at puberty, 908 Acidosis renal tubular (proximal), 858 INFANCY, TRANSIENT ISOLATED, testis, 29, 68 Acidosis renal tubular y sordera neuro- 23 thumb, 160, 167, 231,455,649, 87S sensorial, 863 ADRENAL HYPOPLASIA CONGENITAL thumbnail, 609 Acidura a-metil acetoacetica, 40 autosomal recessive form, 24 thymus gland, 522, 6SS Addurie glutarique, 421 X-linked form, 24 thyroid, 181, 946 Acondrogenesis tipo I, 9 Adrenal18-hydroxylase deficiency, 905 tibia, 875 Acondrogenes'is tipo II, 8 Adrenal18-hydroxysteroid dehydrogenase toenail, at birth, 409 Acondroplasia, 10 deficiency, 906 toenail, great, 609 ACOUSTIC NEUROMATA, 12 ADRENOCORTICAL UNRESPONSIVE• toes, all, 3 7S ACPS type I, 13 NESS TO ACTH, HEREDITARY, toes, all except one, 336 ACPS type II, 13 25 toes, one or more, 336, 337, 375,451, ACPS type JII, 13 ADRENOCORTICOTROPIC HORMONE 459, 700, 818 Acquired agammaglobulinemia, S21 DEFICIENCY, ISOLATED, 26 tongue, 28 Acquired agammaglobulinemia with thymoma, Adrenogenital syndrome, 908 tooth enamel, 46 944 salt-losing form, 908 tragus, 312 Acrania, 52 non-salt losing form, 908 ulna, 853, 875,941,981 Acrocefalopolisindactilia, 13 simple virilizing form, 908 1132 Index
Adrenogenital syndrome with hyper- Alaninuria, 851 ALSTROM SYNDROME, 41 tension, 902 Albers-SchOnberg disease, 779, 780 Alveolar ridge, Adult hemochromatosis, 460 Albinism, cutaneous and deaf-mutism, 30 broad, 22, 388, 891 Adult lactase deficiency, 567 ALBINISM-CUTANEOUS AND DEAFNESS, cyst in alveolus, 118,407,408, 412, Adult lactose intolerance, 567 30 617,929, 931, 932,965 Adult liver fibrosis and cirrhosis, 39 ALBINISM-CUTANEOUS WITHOUT granuloma of alveolus, 276, 929, 931 Adult pseudohypertrophic muscular DEAFNESS, 3 I lymphangioma of, 613 dystrophy, 687 Albinism, hemorrhagic diathesis and pigmented periapical abscess in alveolus, 276, 279, reticuloendothelial cells, 33 Adynamia episoclica hereditaria, 794 929, 965 ALBINISM-OCULAR, 32 Afaquia, 84 short, 554 ALBINISM-QCULOCUT African cardiopathy, 353, 354 ANEO US, v-shaped maxillary, 225 Agalactokinase, 402 HERMANSKY·PUDLAK TYPE, 33 Altered consciousness or mentation (see ALBINISM-OCULOCUTANEOUS, TYRO• Section III, Table XXXVI) Agamaglobulinemia ligada al sexo, 27 SINASE NEGATIVE, 34 Altered reflexes (see Section III, Table Agamaglobulinemia linfop6nica autos6mica ALBINISM-OCULOCUTANEOUS, TYRO· XXXVI) recesiva, 522 SINASE POSITIVE, 35 Alymphocytosis, 524 Agammaglobulinemia and thymoma, 944 ALBINISM-OCULOCUTANEOUS, YELLOW AMASTIA, 42 AGAMMAGLOBULINEMIA, X-LINKED MUTANT, 36 AMAUROSIS CONGENITA OF LEBER, 43 INFANTILE, 27 Albinism, tyrosinase negative oculocutaneous, types I and II, 43 AgammaglobulimSmie uee au sexe, 27 34 Amaurotic familial idiocy, all three types, Agammaglobulinemie lymphopenique, 522 Albinism, tyrosinase positive oculocutaneous, 713 Aganglionic megacolon, 192 35 Amegakaryocytic thrombocytopenia and Aganglionose colique, 192 Albinism, yellow mutant oculocutaneous, 36 bilateral absence of the radii, 941 Albinisme avec surdi-mutit6, Aganglionosis del colon, 192 30 AMELO-CEREBRO-HYPOHJDROTJC Agenesia del cuerpo callosa, 220 Albinisme cutan6 sans surditC, 31 SYNDROME, 44 Agenesia del pericardia, 805 Albinisme ocu1aire, 32 AMELOGENESIS IMPERFECT A, 46 Agenesia del timo, 943 Albinisme oculaire cutan6, mutant jaune, 36 Amelogenesis imperfecta nonhereditaria Albinisme oculocutan6 Agenesia hep3tica, 463 avec absence de tyro- segmentalis, 739 sinase, 34 Agenesia renal bilateral, 856 Amelogenesis imperfccta with onycholysis, Agenesia renal unilateral, 857 Albinisme oculocutan6 avec tyrosinase, 35 hypohidrosis, rough skin and Ag6m~siecong6nitale des incisives lat6rales Albinisme oculocutan6, Hermansky-Pudlak seborrhea of scalp, 45 sup6rieures, 934 type, 33 Amelogenesis imperfecta, 9 types, 46 Ag6n6sie de 1a rate, 92 Albinismo cut:ineo sin sordera, 31 Ameloonychodyshidrotic syndrome, 45 Albinismo cut:ineo Ag6nesie de l'oreille, 232 y sordomudez, 30 AMELO-ONYCHO-HYPOHIDROTJC Ag6n6sie des corpus callosum, 220 Albinismo ocular, 32 SYNDROME, 45 Ag6n6sie des sinus de Ia face, 797 Albinismo Oculocutineo, Hermansky-Pudlak Ameloonycholyticdyshidrotic syndrome, tipo, 33 Ag6n6sie du corps calleux, 220 45 Ag6n6sie h6patique, 463 Albinismo Oculocutineo mutante amarillo, Amenorrhea, primary, 49,303, 350,436, Ag6nesie partielle de l'oreille avec plicature 36 437, 438, 483, 823, 903, 984 Albinismo Oculocutineo de l'h61ix, 331 tirosinasa negativa, Aminoaciduria dicarboxilica, 294 34 Ag6n6sie p6ricardique, 805 A-mino-aciduric-hyperdibasique, 491 Albinismo 6culocut:ineo Ag6n6sie r6nale bilat6rale, 856 tirosinasa positiva, Aminopterin damage in utero, 380 35 Ag6n6sie r6nale unilat6rale, 857 Amish albinism, 36 Albinism us mit SchwerhOrigkeit, Agenesis of corpus callosum, 220 30 Amnion nodosum, 856 Albinismus ohne SchwerhOrigkeit, 31 Agenesis of inner ear, 562 Amniotic bands, 874 Albinismus Okulokutaner, Hermansky-Pudlak Agenesis of paranasal sinuses, unilateral, Amniotic fluid typ, 33 797 decreased, 856 Albrecht syndrome, 269 Agenesis of pericardium, 805 increased, 9, 62, 148, 153, 160, 187, Albright-Butler syndrome, 862 Aging premature, 998 300, 364,603, 910 Albright hereditary osteodystrophy, 830 Aglossia-adactylia syndrome, 451 Amputation (deletion) du bras court du Alcaptonuria, 37 Aglossia congenita, 451 chromosome 18, 158 Aldosterone unresponsiveness, 829 Aglycogenosis, 424 Amputation (deletion) du bras long du Alkalosis with diarrhea, 148 chromosome 18, 159 AGNATHIA, MICROSTOMIA AND SYNOTIA, ALKAPTONURIA, 37 Amusie, 273 28 Alkinetic or atonic "drop" seizures, 135 Amyloidosis, deafness and urticaria, 982 Agoitrous cretinism, 946 Allotypes, antibodies to human, 71 Amylopcctinosis, 116 AGONADIA, 29 Allotypes chez l'homme, 476 Amylose avec urticate et surdit6, 982 AHF deficiency, 461 Alopecia adnata, 623 Amyoplasia congenita, 88 AHG deficiency, 461 ALOPECIA AREATA, 38 Anabolic idiopathic hypoalbumincmias, 4 7 AHOP syndrome, 730 Alopecia arcata, 38, 259, 281 Anal aganglionosis, 192 Ahornsirupkrankheit, 628 Alopecia, male or female pattern, 99 Anal atresia and iris coloboma, 544 Ahotutuo, 886 Alopecia totalis, 38 Anal atresia or stenosis, 69 Aislamiento de 1a arteria subdavia de Ia aorta, Alopecia universalis, 38 Anal membrane, 69 546 Alop6cie en aires, 38 Analatresie, dreigliedrige Daumen, abstchend Akatalasaemie, 6 Alotipos humanos (Marcadores), 476 Ohren, Innenohr-SchwerhOrigkeit, 72 Akromesomele Dysplasie, Typ Campailla ALPHA-METHYL-ACETOACETIC ANALBUMINEMIA, 4 7 Martinelli, 19 ACIDURIA, 40 ANALPHALIPOPROTEINEMIA, 48 Akromesomele Dysplasie, Typ Maroteaux, 20 0!-Methyl-IJ-hydroxybutyric aciduria, 40 Ancestry Akroosteolyse, 21 ALPHA1-ANTITRYPSIN DEFICIENCY, Amish, 156 Akrozephalopolysyndaktylie, 13 39 Arab, 420 Akrozephalosyndaktylie, 14 Alpha 1 ,4-glucosidase deficiency, II Ashkenazic Jewish, 112, 406, 717, 804 Akute intermittierende Porphyrie, 820 Alphalipoprotein deficiency, 48 Azore-Portugese, 598 Akzessorisch Leberlappen, 467 Alport syndrome, 708 Black race, 420, 613 Akzessorischer Lungenlappen, 611 AlstrOm-Hallgren syndrome, 41 Brazilian, 8 Index 1133
Filipino, 420 Angeborener kompletter atrioventrikuliircr Anomalie des gros vaisseaux (aorte et Finni<>h, 148,491,963 Block, 454 artCre pulmonaire) qui prenncnt leur French Canadian, 491,717 Angcborener Laktascmangel, 566 origine dans le ventricule droit commun• Japanese, 6 Angcwachsen Ohrliippchen, 323 ication interventrlculaire antCrieure, Jc\vish, 397 ANGIOEDEMA, HER EDIT AR Y, 54 297 Kurd, 420 Angioid streaks with skin changes, 832 Anomalie des gros vaisseaux (aorte et artCre Lebanese, 804 Angiokeratoma corporis diffusum universalc, pulmonaire) qui prennent leur originc Mediterranean basin, 420 373 dans lc ventricule droit communi• Oriental, 420 Angioma cavcrnosum of external ear, 313 cation interventriculaire posh~rieure, Scandinavian, 810,963 Angioma pigmentosum ct atrophicum, 1005 298 Swiss, 418 Angiomatosc eutanCc ct digestive, 113 Anomalie du nez et de Ia cloison nasale, 722 Ugandan, 353, 354 ANGIO-OSTEOHYPERTROPHY Anomalie du septum aortico-pulmonaire, 83 Andersen disease, 116 SYNDROME, 55 Anomalie du septum vcntriculaire, 989 Androgen-genetic regional alopecia, 99 ANHIDROSIS, 56 Anomalie du transport de l'iode, 542 ANDROGEN INSENSITIVITY SYNDROME, Anhidrosis hypotrichotica, 333 Anomalie particlle des veines pulmonaires, COMPLETE, 49 Anhidrotische ektodermale Dysplasic, 333 841 ANDROGEN INSENSITIVITY SYNDROME, Anhydrase, 56 Anomalien der a. hepatica, 464 INCOMPLETE, 50 ANIRIDIA, 57 Anomalien des Kortikoid-bindenden Androgenetic alopecia, 99 ANISOCORIA, 58 Globulins, 222 Anectine apnea, 152 Anisomaltasia, 920 Anomalies artCriellcs hCpatiques, 464 Anemia falciforme, 886 ANISOMETROPIA, 59 Anomalies de la caronculc, 130 ANEMIA, HYPOPLASTIC CONGENITAL, 51 Ankle Anomalies de Ia globuline transportcuse du AnCmie drepanocytaire, 886 calcaneovalgus deformity of, 882 cortisol (CBG-transcortine), 222 ANENCEPHALY, 52 decreased range of motion of, 128, 311, Anomalies de la trompe d 'eustache, 370 Aneurisma de la car6tida interna del oido 560 Anomalies de la vesicule biliaire, 404 medio, 530 dorsiflexed, 85 Anomalies des mains-surditC de perception, Aneurisma del seno a6rtico de Valsalva, 53 fixed, 1001 450 ANEURYSM OF AORTIC SINUS OF flexion contracture of, 470 Anomalies du carpe et du tarse, fissure VALSALVA, 53 increased range of motion of, 90 palatine, oligodontie et surdit6 par Aneurysm of membranous septum with one large, 90,873 ankylose de !'etrier, 183 or more perforations, 989 valgus deformity of, 85, 653, 685 Anomalies du fibrinogene, 4 Aneurysm of middle car, 530 varus deformity of, 510, 882 Anomalies of caruncle, 130 Aneurysm of vein of Galen, 186 unspecified defect of, 649 Anomalies rCnale genitale et de l'orielle Aneurysm serpentina of external ear, 313 Ankyloblepharie, 60 moyenne, 860 Aneurysma der a. carotis im Bereich des ANKYLOBLLPHARON, 60 Anomalies vertCbro-ano-tracheo-radiales, Mittelohrs, 530 Ankyloblepharon filiformc adnatum, 60 987 Aneurysma des Sinus Valsalva, 53 ANKYLOGLOSSIA, 61 Anomalous atrioventricular (AV) conduc• Anevrisme de l'oreille moyenne, 530 Ankyloglossum superior syndrome, 451 tion, 1002 Angeborene anosmic, 70 Ankylose dentaire, 927 Anomalous closure of embryonic cleft, 7 33 Angeborcne Fazialisparese, 377 Ankylose de~ziihnc, 927 Anomalous muscle bundle of right ventricle, Angeborene gencralisierte Muskelhypoplasie, Ankylosed teeth, 927 731 686 Annular corneal dystrophy, 215 Anomalous origin of both coronary arteries Angeborene Glaukom, 414 Annular grooves, 874 from pulmonary artery, 64 Angeborene hcreditiire Hornhautdystrophic, ANNULAR PANCREAS, 62 ANOMALOUS ORIGIN OF CONTRA• 207 Ano imperforado, pulgares trifahingicos, LATERAL SUBCLAVIAN ARTERY, Angeborcne hypoplastisehe Aniimie, 51 orejas en asa y pCrdida de Ia audici6n 63 Angeborene Lid-Ektropie, 371 neurosensorial, 72 ANOMALOUS ORIGIN OF CORONARY Angeborene Linsenektopia, 584 Anoftalmia, 67 ARTERIES FROM PULMONARY Angeborene Lues, 385 Anomaler Ursprung der A. subclavia, 546 ARTERY, 64 Angeborene Nebennieren-Hyperplasie: 3 13- Anomalia de Uhl, 979 Anomalous origin of left coronary artery Hydroxysteroid-Dchydrogenase• Anomalia total del drenaje venoso pulmonar, from pulmonary artery, 64 Mangel, 909 842 Anomalous origin of left subclavian artery Angeborene Nebennieren-Hyperplasie 11 {3- Anomalia venosa hep:itica, 468 from right aortic arch, 63 Hydroxylase-Mangel, 902 Anomallas carpo-tarsales, paladar hendido, Anomalous origin of right coronary artery Angcborene Nebennieren-Hypcrplasie 17 a• oligodoncia y sordera for fijaciOn del from pulmonary artery, 64 Hydroxylase-Mangel, 903 estribo, 183 Anomalous origin of right subclavian artery Angeborene Nebennieren-Hyperplasie 20-22 Anomalias de la carUncula, 130 from left aortic arch, 63 Desmolase-Mangel, 907 Anomalias de la uni6n corticosteroide Anomalous panleukocytic granulation, 143 Angcborene Nebennieren-Hyperp1asie 21- globulina, 222 Anomalous shortened chordae tendineae, Hydroxylase-Mangel, 908 Anomallas de Ia vesicula biliar, 404 666 Angeborene Nebennieren-Hypoplasie, 24 Anomalfas de las arterfas hepiticas, 464 Anoniquia hereditaria, 66 Angeborene Nephrose, 709 Anomalias de las manos y sdrdera neuro- Anoniquia y ectrodactilia, 65 Angeborene ocuhlrc motorische Apraxic, sensorial, 450 Anonychia, 66 191 ANONYCHIA AND ECTRODACTYLY, Angcborene Pigmentation der Papillc, Anomalias del tabique interauricular, 96 65 639 Anomalias rcnalcs, gcnitales y del oido ANONYCHIA, HEREDITARY, 66 Angeborene Ptose, 834 medio, 860 Anonychia totalis congenital, 66 Angeborcne Supraventrikuliire Tachykardie, Anomalie cutanCc ct ungueale-Cpidermolyse, Anonychie avec ectrodactylie, 65 922 609 Anonychie Mreditairc, 66 Angcborene Toxoplasmose, 387 Anomalie de Ia deshalogenation des iodotyro- Anonychie mit Ektrodaktylie, 65 Angeborene Zwerchfellhernie, 289 sines, 543 Anoperineal fistula, 69 Angcborener, familiiirer Hyperparathyreoid- Anomalie de Ia veine h6patique, 468 ANOPHTHALMIA, 67 ismus, 499 Anomalie de i'Cmail, 935 Anophthabnia and digital anomalies, 662 Angeborener isolierter Lipasemangel, 597 Anomalie de Uhl, 979 ANORCHIA, 68 1134 Index
ANORECTAL MALFORMATIONS, 69 stenosis, 632, 720 ArteriovenOsc Fistel des aussercn Ohr, 313 Anorquia, 68 AORTIC VALVE ATRESIA, 79 Artcriovcn6se Koronarfistel, 218 ANOSMIA, CONGENITAL, 70 Aortic valve, bicuspid, 108 Arteriovenous aneurysm of external car, 313 Anosmia, isolated, 70 AORTIC VALVE STENOSIS, 80 Arteriovenous fistula, 55 Anotia, 664 AORTIC VALVE, TETRACUSPID, 81 Arteriovenous malformations, spinal, cortical, AnquiloblefarOn, 60 AORTICO-LEFT VENTRICULAR TUNNEL, cerebellar, 186 Anquiloglosia, 61 82 Artery Anterior chamber cleavage syndrome. 439 Aorticopulmonary fene-stration, 83 carotid, occlusion of, 474 Anterior duodenal portal vein, 468 Aorticopulmonary fistula, 83 coronary, calcification of, 217 Anterior megalophthalmos, 637 Aorticopulmonary window, 83 rupture of, 338, 832 Anterior nasal atresia, 723 AORTICO-PULMONARY SEPTAL DEI'ECT, single umbilical, 160,634, 856,987 Anterior tunica vasculosa len tis persistence, 83 stenosis of peripheral pulmonary, 263, 845 Aorto-linksvcntrikuliire Tunnelung, 82 720,999 Anterolateral diaphragmatic hernia, 289 Aortopulmonaler Septumdefckt, 83 ARTHRO-OPHTHALMOPATHY, 90 Anthelix Aortopulmonary defect, 83 Arthrochalasis multiplex congenita, 338 crumpled, 85 Apert-Crouzon disease or Vogt cephalo- Arthrogrypose de la main et surditC de per- partially obliterate~concha, 85 dactyly, 14 ception, 89 prominent, 97, 157, 159, 161, 162, 328, A pert syndrome, 14 Arthrogrypose der Hand mit lnnenohr- 330 APHAKIA, 84 SchwerhOrigkeit, 89 AnthCiix saillant, 330 Apical cardiac impulse, double or triple, Arthrogrypose multiple cong6nitalc, 88 ANTIBODIES TO HUMAN ALLOTYPLS 917 ARTHROGRYPOSIS, 88 (MARKERS), 71 Aplasia cut:inea, 608 Arthrogryposis multiplex congenita. 88 Anticorps contrc les allotypes, 71 Aplasia cutis circumscripta, Blasenbildung ARTHROGRYPOTIC HAND ANOMALY Anticuerpos contra los alotipos humanos und Nagclanomalien, 609 AND SENSORINEURAL DEAFNESS, (Marcadore<>), 71 Aplasia cutis congenita, 608 89 Anthelix auricular prominente, 330 Aplasia cutis congenita circumscripta, 608 Arthroosteoonychodysplasia, 704 Antik6rper gegen menschliche Allotypen, 71 Aplasia de los conductos de MUller, 682 Artrogriposis mUltiple congCnita, 88 Antimongolism, 170 Aplasia dellaberinto, 562 Artro-ofta!mopatla, 90 Antral atresia, 910 Aplasia of right ventricular myocardium, 979 Ascher syndrome, Ill Anus Aplasia of tibia with polydactyly and absent Ascites, 395,403,460,469, 710,717, 978 absence of voluntary control of anal thumbs, 649 chylous, 534, 645 sphincter, 693 Aplasia rctincana, 865 Asexual atcleotic dwarfism, 303 anterior distortion of anal orifice, 877 Aplasie cutanCc, 608 AsociaciOn Vater, 987 duplication of, 194, 677 Aplasie dcr labyrinths, 562 Asphyxia, 181,575 ectopic site, 69 Aplasia dcr Nasennebenh6hlen, 797 ASPHYXIATING THORACIC DYSPLASIA, imperforate, 69, 72, 160, 167, 329, 364, Aplasie dcr rechten Ventrikel (Uhl), 979 91 401,544,574,578,634,727,754, Aplasie des Ohrlappchens, 320 Asphyxierende Thoraxidystrophie, 91 884, 885, 960,987 Aplasie labyrinthique, 562 ASPLENIA SYNDROME, 92 mucoid discharge from, 535 Aplasie radiale, 853 Astigmatism, 591,637 palpable fecal mass at end of exam Aplasie r6tinienne, 865 asymmetric myopic astigmatism, 552 finger, 192 Aplasie thymique, 943 hyperopic astigmatism, 1 small in size but normal in location, 69 Aplasie von Uterus und Vagina, 682 myopic astigmatism, 90,479, 757 unspecified defect of, 193 Apnea, 24, 152, 283,513,571 Astrocytoma including optic nerve glioma, white folded soft hyperplastic lesions of Appelt-Gerkcn-Lenz syndrome, 875 188 anal mucosa, 681 Apraxie oculomotrice congCnitalc, 191 Asucrosia, 920 ANUS-HAND-EAR SYNDROME, 72 Arachnodactylie avec contractions, 85 Asymmetric gonadal dysgenesis, 173 AOP syndrome, 730 Arachnodactyly, 85, 166, 183,557,629, Asymmetric septal hypertrophy with obstruc- AORTA, COARCTATION, 73 630 tion, 917 Aorta (also see each part of CV system and ARACHNODACTYLY, CONTRACTURAL, Ataxia (see Section III, Table XXXVI) Section Ill, Table XXXII) 85 cerebellar, progressive, 12, 93, 94,743, coarctation of, 182, 455, 593, 720, 977 Aracnodactilia con contracturas, 85 745,746,849,850, 1004 cystic medial necrosis of, 977 Arche aortique cervicale, 74 gait, 188,759 dissection of, 338 Arche aortique double, 75 intermittent, 547 poststenotic dilatation of ascending, 80, Arco a6rtico cervical, 74 limb, 746 916 Arco aOrtico derecho, 77 progressive, 136,742, 744, 745 prominent ascending, 82 Arco a6rtico doble, 75 spinocerebellar, progressive, 508 separate origin of left internal and ex- Arcuate uterus, 684 telangiectasia, Louis-Bar, 13 ternal carotids from, 121 Arginase deficiency, 86 truncal, 188, 746 Aortenisthmusstenosc, 73 ARGININFMIA, 86 with onset in adulthood, 742, 743, Aortenklappen-Atresie, 79 ARGININOSUCCINIC ACIDURIA, 87 744, 746,747 Aortic aneurysm, 630, 977 Argininosuccinuria, 87 with onset in childhood, 651, 747 Aortic arch Arhinencephaly, 4 73 with onset in early infancy, 94 anomalies, 74, 384 Arnold-Chiari deformity, 103,693 Ataxia and tapetoretinal degeneration, 136 inconspicuous, 74 Arrhinencephalia unilateralis, 824 Ataxia cerebelosa y degeneraciOn corio• AORTIC ARCH, CERVICAL, 74 ArtCre coronaire unique, 219 retineana, 136 AORTIC ARCH, DOUBLE, 75 ArtCre pulmonaire anormale partie de l'aorte ATAXIA-HYPOGONADISM SYNDROME, AORTIC ARCH INTERRUPTION, 76 ascendantc, 767 93 AORTIC ARCH, RIGHT, 77 ArtCre pulmonairc anormale partie du canal ATAXIA-TELANGIECTASIA, 94 Aortic atresia, 79 artt~riel,768 Ataxie cCrCbelleuse avec degenerescence Aortic coarctation, 73 Arteria coronaria {mica, 219 chorio-rt~tinienne,136 Aortic pulmonary lobe, 612 Arteriosus Athetosis, gingival fibromatosis, depig• Aortic septal defect, 83 patent ductus, 121,139,161,176,182, mentation, microphthalmia, and AORTIC STENOSIS, SUPRAVALVAR, 78 384,401, 440,455, 720 oligophrenia, 413 Aortic valve truncus, 389 Athyrosis, 946 insufficiency, 630,673,675,678,680, ArteriovenOse Fehlbildungcn des Zentral• Atopic dermatitis and neural hearing loss, 777 nervcnsystem, 186 245 Index 1135
ATRANSFFRRINEMIA, 95 Atrophic olivopontocCrCbelleuse avec Axenfeld anomaly, 439 Atresia biliar, liO dCgCnCrescence n:;tinienne, 745 Azygous continuation of inferior vena cava, Atresia, bronchial, 120 Atrophic olivopontocCrCbelleuse avec ophtal• 528 Atresia coanal posterior, 727 moplegie et dCmence, 7 44 Azygous vein, large, 816 Atresia de Ia vagina, 984 Atrophic olivopontocCrCbelleuse dominante Atresia de Ia v3.Jvula a6rtica, 79 (type Menzcl),742 Atresia de Ia V
Bifid uvula, 184 decreased in left or right arm, 546 cerebrocortical atrophy, 485,744 Bikuspidale Aortenklappe, 108 inc'Tcased, 26, 91, 351,441, 484, 578, 590, cerebrum absent, 727 Bikuspidale Pulmonalklappe,_l 09 712,776,902,903 forebrain, failure to divide, 158, 168, Bilateral acoustic neurofibromata, 12 labile hypertension, 351,820,822 473 Bilateral aortic arch with left or right postural hypotension, 820, 822 gyri absent, 139,578, 603 descending aorta, 75 pulmonary venous hypertension, 92, 666 large ventricles, 481 Bilateral conductive deafness and absent systolic pressure gradient between radial midline defect of, 139, 158, 401 incus-stapes junction, 244 and femoral pulse, 73 olfactory lobe absent, 634 Bilateral hyperopia with marked difference widely different systemic arterial pulse olivopontocerebcllar atrophy, 742, 743, between eyes, 59 pressure, 82, 466, 800 744,745, 746, 747 Bilateral myopia with marked difference Blood vessel defects (see Section Ill, Table small, 220 between eyes, 59 XXXII) spongoid, 881 Bile duct BLOOM SYNDROME, 112 sulci absent, 603 obstruction of, 110 Bloqueo auriculo-ventricular completo BRAIN, SPONGY DEGENERATION, I 15 obstruction of common, 532 congentio, 454 Branched-chain ketoaciduria, 628 Bile duct cyst, 149 Blue diaper syndrome, 974 Branched-chain ketonuria, 628 BILIARY ATRESIA, 110 Blue monocone-monochromatic color blind• BRANCHER DEFICIENCY, I 16 Bilobed gallbladder, 404 ness, 195 Branchial cleft cysts, Bailey type IV, 706 Bing-Siebenmann dysplasia, 315 Blue rubber bleb nevus of skin and gastro• BRANCHIAL CLEFT CYSTS OR SINUSES, Biologic mother (see Section III, Table intestinal tract, 113 117 XXII) BLUE RUBBER BLEB NEVUS SYNDROME, Branchial cleft fistula, 117 Biotin-responsive j3-methylcrotonylglycin- 113 BRANCHIO-SKELETO-GENITAL uria, 107 Bochdalek hernia, 289 SYNDROME, I 18 Bird-headed dwarfism, 881 Bodo causado por boci6genos, 435 Branchiogene Zyste, branchiogcne Sinus, 117 Birthmark, 715 Boder-Sedgwick syndrome, 94 Braquidactilia, 114 Birth weight Body habitus Breast fibroadenomas, hypertrichosis and high for gestational age and for ethnic eunuchoid, 438 gingival fibromatosis, 412 group, 856 small for gestational age, 977 Breath sounds low for gestational age and for ethnic stocky, 305 absence of, at base of lung, 39 group (see also Intrauterine growth thin, 39, 265, 352, 759 decreased at base of lung, 39 retardation), 9, 160, 161, 163, 164, Bone (also see by name, group or part and decreased in left lower lobe, 120 166, 167, 168, 169, I 70, 242, 299, Section III, Table XXIX) decreased on side of diaphragmatic 300,305,379,381,384, 385,388, increased fractures with prenatal onset, hernia, 289 389, 603, 823, 999 777 pulmonary parenchymal amyloidosis, low for shortened gestational age increased fragility of, 310, 325, 391, 776, 982 and for ethnic group, 382 847, 967 Breech delivery, 754, 823, 856 Bixler syndrome, 506 Bone, hair, nail, and tooth dysplasia, 965 Brides, sillons (amniotiques), 874 Bladder (see Gallbladder or Urinary bladder) Bony changes characteristic of rickets, 516, Brievete des tendons nechisseurs des doigts Bl6farocalasia, labia doble y tiroidea not6xica 593, 873 avec incapacite d'6uverture complete• tumefacci6n, 111 Bony choanal atresia, anterior, 723 ment de la bouchc, 882 Blepharochalasis, dedoublement de Ia tevre et Bony choana I atresia, posterior, 727 "Broad beta" syndrome, 495 goitre non toxique, Ill BOOk syndrome, 493 BROAD THUMB-HALLUX SYNDROME, Blepharochalasis, Doppellippe und Struma, Bound-{3-alanine metabolism, disorders of, 119 Ill 126 Broad thumbs syndrome, 119 BLEPHAROCHALASIS, DOUBLE LIP AND Bourneville syndrome, 975 BRONCHIAL ATRESIA, 120 NONTOXIC THYROID Bowed lower leg, 250, 704, 798, 828, 897 Bronchial atresia of posterior apical seg• ENLARGEMENT, 111 Bowel and bladder, dysfunction, 877 ment left upper lobe, 120 Blindness (see also Vision Section III, Table Bowel paralysis, 894 Bronchiectasis, sinusitis and dextrocardia, XXIV), 2, 224,415,433, 578,593, Bowen syndrome, 139 285 621,675,736,759,780 Brachycephaly (see Section 111, Table Bronchitis, 522, 606,986 at birth, 101,865 XXIX) chronic, 706, 944 at birth in male, 721 BRACHYDACTYLY, 114 recurrent, 263 secondary to corneal vascularization, 408 Brachydactyly (see also Section III, Table subacute, 706 temporary during summer in early life, XXIX) Bronchus 538 Brachydactyly and fibula dysplasia, 392 aberrant, 611 terminal after 5th-6th decade, 538 Brachydactyly and macular coloboma, 621 absence of eparterial, 816 with onset before 1 year, 43, 783 Brachydactyly, peculiar fades and mental atresia of, 120,860 with onset before 7 years, 759 retardation syndrome, 119 bronchoesophageal fistula, 571 with onset in 5th decade, 408 Brachydactyly type A1 (Farabee type), 114 bronchogenic cyst, 805 Blindness for color Brachydactyly type A2 (brachymesophalangy pattern defect, 612 confusion with yellow and blue shades, II, Mohr-Wreidt type), 114 Bronze diabetes, 460 199,755 Brachydactyly type A3 (brachymesophalangy Brushfield spots, 121, 139, 171 pastel color confusion, 197 V, clinodactyly), 114 Bruton agammaglobulinemia, 27 subnormal appreciation of green, 195, 196 Brachydactyly type B, 114 Bulbar symptoms, 344, 820, 822 subnormal appreciation of red, 195, 197 Brachydactyly type C, 114 Biirger-Gri.itz syndrome, 489 total, 198,253,755 Brachydactyly typeD ("stub thumb"), 114 Buttocks, protuberant, 10 Blistering, localized absence of skin and nail Brachydactyly type E (brachymesophalangy abnormalities, 609 and brachymetapody), 114 Bloc cardiaque complet d'origine congenitale, Brailsford syndrome, 678 454 Brain c Bloch-Sulzberger syndrome, 526 absence of, 283, 380 Blood group incompatibility during patient's asymmetric, 578 C SYNDROME, 121 prenatal life, 340 cerebral cortex, absent, 480 Caffey disease, 221 Blood pressure cerebral cortex convolutions thickened, Calasia esof Calcmosis de las coronarias, 217 Cardiovascular system (see parts and Section Cerebellar signs, 2, 255, 344,406, 579, 717, Calescencc des racine~dentaues, 928 III, Table XXXII) 810,820,822,963 Calvaria (also see Section III, Table XXIX) CARNITINE DEFICIENCY OF MUSCLE. Cerebral artery, occlusion of, 832 anterior bifid cranium, 635 PRIMARY, 124 CFREBRAL GIGANTISM, 137 asymmetric, 158, 227,230,408, 505, CARNITINE PALMITYL TRANSFLRASE Cerebral GM ~-gangliosidosis,431 593, 887 DEFICIENCY, 125 Cerebral palsy, spastic, 588 bifid cranium, 724 Carnitinpalmityl-Transferase-Mangel, 125 Cerebral sclerosis, degenerative diffuse- bony defect in midline of, 343 CARNOSINEMIA, 126 Scholz type, 651 bulging areas of, 555 Carotid artery aneurysm, 530 Cerebral ~clerosis- diffuse Krabbe type, 415 cramofacial deformity secondary to bony Carotid artery, common origin of brachia- Cerebral sclerosis I, 803 mass, 390 cephalic and contralateral, 200 Cerebral white matter, spongy degeneration, defect of, with midline herniation of Carotid artery, occlmion of, 474 liS meninges, 642 CAROTID BODY TUMOR, 127 CEREBRO-COSTO-MANDIBULAR defect of, with neural tissue exposed, 52 Carpal o<>teochondroma, 311 SYNDROML, 138 deforming overgrowth of, 887 CARPAL-TARSAL OSTEOLYSIS AND CEREBRO-HEPATO-RENALSYNDROME 139 , hemicrania, 283 CHRONIC PROGRESSIVE midline mass of, 353 GLOMERULOPATHY, 128 Cercbromacular degeneration, 713 oval shape of, 85 CARPAL-TARSAL OSTEOLYSIS, RE- Cerebro-oculo-facio-ossares Syndrom, 140 pointed, vertical index above, 77 CESSIVE, I29 CFREBRO-OCULO-F ACIO-SKELET AL progression of defect of, during infancy, Carpenter syndrome, I 3 SYNDROME, 140 227 Carpopedal spasm, 515 Cerebroside lipidosis, 406 round, 281 Carpotarsal and cranial dystrophy, 223 Cerebroside sulfatidosis, 651 small on side of facial angioma, 915 Carpotarsale Anomalien, Gaumenspalte, Cerebrosidosis, 406 ~mall(sec Section Ill, Table XXIX) Oligodontie und Schwerhbrigkeit mit Cerebrovascular defect, 121,186, 187, 777, soft membranous, 77 Stapes-Fixation, 183 825, 832,859 triangular shape of, 121,162,167,470 Cartilage-hair hypoplasia, 653 Cerulopla<>min deficiency, 469 trilobed, 555 CARUNCLE ABERRATIONS, 130 CERUMEN VARIATION (MARKER), 141 wormian bones in, 825 Cat cry 163 Ceruminalformen, 141 Calv1cie comlln, 99 ~yndromc, Cat eye 544 Cervical aortic arch, 74 Calvitie commune, 99 ~yndrome, CataciOn de la feniltiocarbamida Cervical cyst or sinus, 117 Oimara pulpar dentaria en llama, 937 (Marcador), 809 Cervical lipomatosis, familial benign, 601 Campomelic dwarfism, 122 Cataract <;ee Section III, Table XXIV) Cervical spina bifida with meningocele, CAMPOMELIC DYSPLASIA, I22 (a!~o present at birth, 106,261,635, 708 642, 727 Camptodactyly, 22, 85, 89, 114, 139, 140, with juvenile onset, 155,261,403, Cervical spine 157, 160, 165, 166, 168, 379, 393, 550 <>hart, 900 450, 556, 603, 634, 635, 644, 650, CATARACT AND ICHTHYOSIS, 131 with block vertebrae, 130, 142,481,667 737, 79I, 981 Cataractes corticales et nuc!Caircs, Cervical teratomas, 283 Camptodactyly and limited jaw excursion, 132 Cataracte<> polaires et capsu!aires, 133 Cervical, thoracic (complete or incomplete) 882 and thoracoabdominal ectopia cordis, Camptodactyly, facultative, 882 CATARACTS, CORTICAL AND NUCLEAR, 132 335 Camptomelic syndrome, 122 CATARACTS, POLAR AND CAPSULAR, CERVICO-OCULO-ACOUSTIC SYN- Camurati-Engelmann syndrome, 290 Canaliculcs lacrymaux surnumCraires, 844 133 DROME, 142 Cataratas corticales y nuclcares, 132 Cervicooculofacial dystrophy, 142 Canaliculi and puncta, supernumerary, 844 Cataratas polar y capsular, 133 CESD, lSI Canaliculus y orificios lacrimales super- Cauda eqmna lipoma, 602 Chalasie, 366 numerarios, 844 Cavernous lymphangiomas of orbit, 765 Chalasoderma, 233 Canavan disease, 115 Cavernous transformation of portal vein, 468 Chambre pulpaire (en fleur de chardon), 937 Cancer endocrinien multiple I, 350 CBG-transcortin, 222 Charcot-Marie-Tooth disease with optico- Cancer endocrinien multiple II, 351 Ccboccphaly, 234 acoustic degeneration, 268 Cancer endocrinien multiple III, 352 Ofcite aux couleurs, 198 Che9iak anomaly, syndrome or disease, 143 Canine teeth cecite pour le bleu et le jaune, 199 CHEDIAK-HIGASHI SYNDROME, 143 globe-~hapedcrown of, 784 Cecum, free floating, 121 Chediak-Steinbrinck anomaly, disease or malposition of, 493 pit in center of, 276 Cefalocelc orbitario, 762 syndrome, 143 Capacite d'enrouler la langue, 951 Cegucra a] color amarillo-azul, 199 Cheeks C..apillary hemangioma, 715 Cegucra al color total, 198 full, broad, 13,223,470,775,999 Capillary lymphangiomas of orbit, 765 Ceguera-monoc6nica-monocromitica al color sagging, 629 Capillary nevus, 715 azul, 195 Cheilite glandulaire, 144 Capsular and polar cataracts, 133 Ceguera nocturna, 718 CHEILITIS GLANDULARIS, 144 Capsulolenticular cataract, 133 Ceguera nocturna e<;tacionaria, 719 Cheilitis glandularis apostematosa, 144 Carbamyl phosphate synthetase deficiency, Celiac disease, 423 Cheilopalatoschisis, 178 485 Celiac sprue, 423 Cheiloschisis, 178 Carbohydrate-induced hyperlipemia, 500 CENTRAL CORE DISEASE, 134 Che!oide, 551 Cardiac limb syndrome, 455 Central crystalline corneal dystrophy, 216 Chemisch induzierte Struma, 435 CARDIOAUDITORY SYNDROME, 123 Central cystoid dystrophy, 622 CHEMODECTOMA OF MIDDLE EAR, 145 Cardiocutaneous syndrome, 586 Central exudative detachment of retina, 622 Chemodectoma of neck, 127 Cardioduodenal duct, 912 Central nervous system arteriovenous mal- Chemodectomie de l'oreille moyenne, 145 Cardiomelic syndrome, 455 formatiOn, 186 Cherry red spot myoclonus syndrome, 671 Cardiopatia congenita, sordera y mal- Central nervous system neoplasms, 188 Cherub dwarfs, 293 formaciones esqueleticas, 667 Central neurofibromatosis, 12 Cherubism, 539 Cardiopathie congenitale, surdite et mal• CENTRALOPATHIC EPILEPSY, 135 Chest formations squelettiques, 667 Centronuclear myopathy, 695 asymmetry of, 338, 887 Cardiospasm, 363 CEREBELLAR ATAXIA AND CHORIO- barrel, 306, 897 Cardiovascular inflammation, 37, 97,236, RETINAL DEGENERATION, 136 broad, 629, 898 387, 398,441,460,531,748,883 Cerebellar-macular abiotrophy, 745 defect of, 156, 270, 532, 685 1138 Index Chest ~ Continued Chondrodysplasic ponctu6e, type rhizomClique, Chromosome 13r syndrome, 167 funnel (pectus excavatum), 1, 85, 118, !54 Chromosome l&r syndrome (most cases), 190, 394,412, 474, 554,572, 576, Chondrodysplasie spondylomCtaphysaire, !59 629,630,676,754,777,802 type Kozlowski, 899 CHROMOSOME 45,X/46,XY MOSAICISM, keeled (pectus carina tum), 22, 85, ISS, Chondrodystrophia calcificans, 153 173 190,257,306,394,474,629,630, Chondrodystrophia foetalis, 10 Chronic diffuse alopecia, 99 678, 777' 801 CHONDRODYSTROPHIC MYOTONIA, !55 Chronic familial granulomatosis, 443 large, 898 Chondrodystrophic epiphysaire, 311 Chronic granulomatous disease of child- long and narrow in infancy, 656 Chondrodystrophy, 10 hood, 443 midline defect of anterior thoracic wall, Chondrodystrophy with clubfeet, 293 Chronic osteopathy with hyperphosphatasia, 335 CHONDROECTODERMAL DYSPLASIA, 776 narrow, co~tal angle below 90°, 10, 91, !56 Chronic progressive external ophthalmo• 883, 884, 940 Chondromcs du pavilion de \'oreille, 317 plegia, 752 pear-shaped, 825 Chondroosteodystrophy, 678 Chronic progressive keratoatrophoderma, proximally keeled with distal funnel Chonechondrosternon, 802 819 chest, 720 Chorea, progressive, 478 Chronische Granulomatose beim m Cleidocranial dysostosis, 185 Combined stenosis, 919 Congenital bilateral absence of kidneys, 856 CLEIDOCRANIAL DYSPLASIA, 185 Commissural lip pits (isolated trait), 596 Congenital bilateral facial palsy, 377 Clinical anophthalmia, 67 Common atrium, 96 Congenital bilateral pseudoglioma of Clinodactyly, 22, 72, 85, 121, 157, 158, COMMON ORIGIN OF BRACHIO• retina with recessive X-linked in• 162, 163, 166, 171, 172, 223, 229, CEPHALIC AND CONTRALATERAL heritance, 721 242,281' 634, 635, 769, 770,771, 769 CAROTID ARTERY, 200 Congenital blepharoptosis, 834 791,887,966,980,981 Common variable immunodeficiency, 521 Congenital bowing of the limbs, 122 Clitoris Communicating hydrocele, 529 Congenital buphthalmos, 414 hypertrophy of, 104, 139, 173, 388, 389, Communication interauriculaire, 96 Congenital cataracts, 132 437,587,818, 909,971 Complement C'l esterase inhibitor deficiency, Congenital cholesteatoma, 150 hypoplasia of, 876 54 Congenital chondrosternal prominence, marked hypertrophy of, 908 Complement C'l esterase inhibitor dysfunc- 801 progressive hypertrophy of, 908 tion, 54 Congenital complete heart block, 454 Cloaca exstrophy of, persisting, 193 Complement C5 deficiency, 812 Congenital complete sinoatrial block, 454 Cloison vaginate transversale, 985 Complete atrioventricular (A-V) block, 454 Congenital contractural arachnodactyly, 85 Clorurorrea, 148 Completed-transposition, 962 Congenital croup, 576 Cloverleaf skull syndrome, 555 Complete transposition of great veins, 842 Congenital cystic dilation of common duct, Clumsiness (also sec Coordination) Complete transposition of great vessels, 962 149 of fine motor movements of upper Componente del grupo especffico Gc Congenital cysts of larynx, 572 limb, 803 (Marcador), 446 Congenital cysts of the nasopharynx, 706 progressive, 86 Concrcscencia de las raices dentarias, 928 Congenital cytomegalic inclusion disease, CNS ARTERIOVENOUS MALFORMA• Concrescence of roots of teeth, 928 381 TION, 186 Condrodisplasia esp6ndilometafisaria, tipo Congenital defects of eustachian tube, 370 CNS DEPRESSION, HEMORRHAGE, Kozlowski, 899 Congenital diaphragm of esophagus, 369 SKELETAL SYNDROME, 187 Condrodisplasia metafisaria con timolinfo• Congenital dislocation of lacrimal gland, 564 CNS NEOPLASMS, 188 penia, 655 Congenital dysfibrinogenemia, 4 CNS tumors, 12,101, 113,345,346, 351, Condrodisplasia metafisaria, tipo Jansen, 652 Congenital dysphagocytosis, 443 7 I 2, 763, 995 Condrodisplasia metafisaria, tipo McKusick, Congenital ectopia len tis, 584 Coarctad6n de Ia arteria pulmonar, 835 653 Congenital ectopic lens and pupil, 583 Coarctation de l'aorte, 73 Condrodisplasia metafisaria, tipo Schmid, Congenital ectropion of conjuctiva, 371 Coarctation of abdominal aorta, 73 654 Congenital ectropion of lids, 371 Coarctation of lower thoracic aorta, 73 Condrodisplasia punctata, tipo Conradi• Congenital endothelial dystrophy of cornea, Coartaci6n de la aorta, 73 Hllnermann, 153 208 Cobalamin malabsorption, 992 Condrodisplasia punctata, tipo rizomielica, Congenital entropion of lid, 372 Cochlea, defect of, 142, 315,777,982 154 Congenital erythroid hypoplastic anemia, 51 Cochlear deafness, myopia and oligo- Conductive deafness with malformed low• Congenital esophageal stricture, 369 phrenia, 251 set ears, 254 Congenital gastric diverticulum, 911 COCKAYNE SYNDROME, 189 Conductive hearing loss (see Section III, Congenital generalized cutaneous elasto- Coelonychie, 559 Table XXV) lysis, 233 COFFIN-LOWRY SYNDROME, 190 Conducto nasolacrimal impermeable, 705 Congenital gigantism of peroxidase granules, Coffin syndrome, 190 Cone monochromatism, 195 143 COFS syndrome, 140 CONE-ROD DEGENERATION, 201 Congenital goiter, 435 COGAN CONGENITAL OCULAR MOTOR Conexi6n an6mala de las venas pulmonares Congenital granular cell myoblastorna, 360 APRAXIA, 191 parcial, 841 Congenital granular cell tumor, 360 Coiloniquia, 559 Congenital absence of hemidiaphragm, 289 Congenital hereditary absence of breast Colesteatoma del hueso temporal, 150 Congenital absence of nails, 66 tissue and nipple either unilateral or Colinesterasa plasm Congenital mitral valve insufficiency, 668 Conradi-Hiinermann syndrome, 153 CORNEAL DYSTROPHY AND SENSORI• Congenital myopia, 699 Constipation, 542, 672, 754, 820, 822, NEURAL DEAFNESS, 206 Congenital myotonia, 701 848, 949, 974, 999 Corneal endothelium Congenital narrowing of tricuspid orifice as as neonate, 69,531 partial detachment of, 140 a consequence of either a small chronic, 192 vesicles on, 213 annulus or thickened valve leaflets, fecal soiling absent in infancy or child• CORNEAL DYSTROPHY, CONGENITAL 970 hood (also see Obstipation), 192 HEREDITARY, 207 Congenital nephrotic syndrome, 709 in infancy, 193 Corneal dystrophy, crystalline, 216 Congenital nonspherocytic hemolytic Constitutional granular gigantism, 143 Corneal dystrophy, disturbed eruption of anemia associated with G6PD de• Constitutional hepatic dysfunction, 487 teeth and gingival fibromatosis, 408 ficiency, 420 Constricciones anulares cong6nitas, 874 CORNEAL DYSTROPHY, ENDOTHELIAL, Congenital nonspherocytic hemolytic Constrictive cardiopathy, 353, 354 208 anemias associated with diminished Contracture de Dupuytren, 301 CORNEAL DYSTROPHY, GRANULAR, activity or kinetic abnormalities of Contractures, multiple with arachnodactyly, 209 erythrocyte pyruvate kinase, 852 85 CORNEAL DYSTROPHY, JUVENILE Congenital oculodermal melanocytosis, 716 Cooley anemia, 939 EPITHELIAL, 210 Congenital optic atrophy, 755 Coordination CORNEAL DYSTROPHY, LATTICE, 211 Congenital pancreatic aplasia, 885 decreased, 12, 93, 137, 188, 191,671, CORNEAL DYSTROPHY, MACULAR, 212 Congenital pancreatic lipase deficiency, 591 713,743,963 CORNEAL DYSTROPHY, POLYMORPH- Congenital partial atresia of larynx, 571 defect of motor and power, 384,638 OUS POSTERIOR, 213 Congenital partial facial palsy, 377 Copper retention, 469 CORNEAL DYSTROPHY, RECURRENT Congenital partial or complete absence of Coproporfiria hereditaria, 203 EROSIVE, 214 the pericardium, 805 COPROPORPHYRIA, 203 CORNEAL DYSTROPHY, REIS• Congenital pericardia I defects, 805 Coproporphyrie h6r6ditaire, 203 BUCKLERS, 215 Congenital pharyngopalatinal diaphragm, COR TRIATRIA TUM, 204 CORNEAL DYSTROPHY, SCHNYDER 181 Cor triatriatum sinistrum, 204 CRYSTALLINE, 216 Congenital pigmentary cirrhosis, 460 Cor triatum, 204 Corneal opacity Congenital pigmentation of optic disk, 639' Cor triloculare, 182 arcusjuvenilis, 216,488,495 Congenital posterior cleft of larynx and Cor triloculare biatriatum, 286 arcus senilis, 216 trachea with persistent esophago• Cord cyst associated with posterior media• blue-white, 206 trachea, 577 stinal cyst, 894 by slit lamp, 673 Congenital pronation, 854 Corea de Huntington, 478 central, 282, 439 Congenital red cell aregenerative anemia, 51 Cornea curtain-like, affecting upper half of Congenital relaxation of diaphragm, 288 cataract at birth, 738 cornea, 408 Congenital retinal cyst, 871 central anterior adhesions, 845 diffuse, 205, 206, 373 Congenital retinal degeneration, 43 conical protrusion of, 43,552, 777,865 multiple in axial corneal stroma, 209 Congenital retinal septum, 867 cystine c:rystal deposits on slit-lamp exam, peripheral, 205, 1000 Congenital rhabdomyoma, 360 238 progressive, 18,57 Congenital rubella, 384 desquamation of, 215 punctate, 210 Congenital sinuses of external ear, 329 diameter over 13 mm, 637, 638 ring-like or annular in region of Congenital stridor, 576 dryness of, 378 · Bowman membrane, 215 Congenital "subclavian steal" syndrome, 546 erosions of, 209,212,214 staphylomatous, 439 Congenital syngnathism, 181 erosions of 1-2 mm, 214 total, 205 Congenital telangiectatic erythema and granulation of, 736 traumatic, 372 stunted growth, 112 infiltration of, 48 unspecified, 552,661,671, 680,749, Congenital thrombocytopenia with aplasia inflammation of, 372, 385,515,553, 757,783 of the radii, 941 821, 1004,1005 white, 18,843 Congenital thymic dysplasia, 524 large, 1, 414,637,672 Corneal opacities and gingival fibromatosis, Congenital underdevelopment of the lashes, limbus sclerization of, 205 408 623 macules on, 212 Cornee plane, 205 Congenital unilateral facial palsy, 377 recurrent painful erosions of, 211 Cornelia de Lange syndrome, 242 Congenital vascular veils in the vitreous, 871 recurrent painful erosions with onset be- Coronal dentin dysplasia, 277 Congenital virilizing adrenal hyperplasia, 908 fore puberty, 214,215 CORONARY ARTERIAL CALCINOSIS, Congenital vitelliform cysts of macufa, 622 reflexes diminished, 12, 211, 212, 215, 217 Conical cornea, 552 265,560 Coronary arteries, anomalous origin from CONJOINED TWINS, 202 rupture of, 338 pulmonary artery, 64 Conjunctiva scarring of, 210,593,736, 1004, 1005 CORONARY ARTERIOVENOUS FISTULA, bluish-grey spots on palpebral, 716 small, 155, 242, 732,735, 737 218 conjunctivitis, 15,355,413,515,821 spheric protrusion of, 43, 865 Coronary artery, calcification of, 217 cystine crystal deposits on slit-lamp stroma of diffusely edematous, 206 Coronary artery-cameral shunt, 218 exam, 238 stroma of diffusely thickened at birth, Coronary artery sclerosis, 217 gelatinous peripheral plaques on, 538 207 CORONARY ARTERY, SINGLE, 219 malignant tumor of, 1004, 1005 vascularization of, 413,593 Coronary calcification of infancy, 217 marked dryness of, 885 Vogt limbal girdles, 216 CORPUS CALLOSUM AGENESIS, 220 persistent, 102 Cornea, conical, 552 Corrected transposition of great vessels or pterygia in, 47 Cornea, enlarged, 637 arteries, 540 purulent, 27 Cornea guttata, 208 Cortical and nuclear cataracts, 132 yellow connective tissue thickening in, CORNEA PLANA, 205 COR TICAL HYPEROSTOSIS, INFANTILE, 47,406,591 Corneal clouding 221 Conjunctival dermoid, 591 circumlimbal, 603 CORTICOSTEROID-BINDING GLOBU• Conjunctival vessels diffuse, 678 LIN ABNORMALITIES, 222 aneurysmal dilatation of, 373 edema with, 139,140,213,281, 384, Cough, 39, 75, 117,200, 283, 573, 805, subconjunctival lipoma, 735 398, 414,672,675,679, 680 960 telangiectasia of, 94 irregular, 212 Coumadin embryopathy, 389 tortuous, 373 progressive, 207,674,679 Cowden disease, 412 Index 1141 Cr Defecto de peroxidase tiro idea, 947 DCficit en tipimerase, 357 Dentin dysplasia, type II, 277 Dcfccto de reabsorci6n renal de bicarbonato, Deficit en fructose-1-phosphate aldolase, Dentin dysplasia with sclerotic bone and 858 395 skeletal anomalies, 280 Defecto del tabiquc a6rtico pulmonar, 83 Di:ficit en fructose-] ,6-diphosphatase hi:pa- DentinogCnese imparfaite, 279 Defecto del tabiquc inter-ventricular, 989 tique, 396 DENTINOGENESIS IMPERFECT A, 279 Dcfecto del transporte del yodo, 542 DCficit en galactokinase, 402 DENTINO-OSSEOUS DSYPLASIA, 280 Dcfcctos de Ia nari? y del tabiq uc nasal, Deficit en globulme liE: a la thyroxine, 950 Dento-auriculaire, 784 722 Di:ficit en glucose-6-phosphate dehydro- Dentocranioocular syndrome, 229 Defectos de Ia tiroxinglobulina (Marcador), genase, 420 Dents dCformties par dysplasie trauma- 950 Deficit en glycogene synthetase, 424 tique, 929 Defectos de Ia trompa de custaquio, 370 Deficit en immunoglobuline A, 525 Dents g6minties, 931 Dcfcctos de las almohadillas endoc:frdicas, Di:J1cit en lecithine cholestiirol acyl tram- Dents incluses, 932 347 rerase, 580 Dents surnumeraires, 936 Defcctos del radio, 853 Deficit en maltase acide, 11 Dependencia ala vitamina B6, 991 Defects in variom portions of muscular Di:ficit en myophosphorylase, 698 Depigmentation, gingival fibromatosis, septum, 989 Deficit en nucleoside-phosphorylase, 729 microphthalmia, oligophrenia and Defcktc dcr Fndokardpolstcr, 347 Deficit en peroxidase thyroidienne, 947 athetosis, 413 oeficicncc en pyruvate cteshydrogCnase, 851 Di:ficit en pyruvate carboxylase avec DCpOts cristallins dans la corni:e, 216 oeficicnce sCvCre en transglucuronylase, acidemie, 850 Depression, 203,255, 730,820, 822 961 Di:fidt en pyruvate-kinase, 852 DERMAL HYPOPLASIA, J'OCAL, 281 Deficicncia aislada de gonadotropina, 438 DCJ1cit en saccharase et en isomaltase, 920 Dermatochalasia, 233 Deficiencia aislada de hormona adrenocorti• Deficit en sti:roide 17-20-desmolase, 904 Dermatoglyphics, 1,18, 29, 89,102,119, cotr6pica, 26 Diificit en sulfite oxydase, 921 137,139,140,142,157,159,161, Deficiencia aislada de hormona de crecimiento, Deficit en trypsinogene, 973 163, 164, 168, 170, 171' 190, 229, 447 Deficit immunologique lymphopeniquc 242, 262,275, 379, 382, 393, 399, Deficiencia ai$lada de tirotropina, 949 liE: au sexe, 524 450,554,556,603,632,634,667, Deficiencia congCnita aislada de lipasa, 597 Di:ficit immunologique tardif (acquis), 521 720,754,814,823,874, 891,980 Dcficiencia congi:nita en lactasa, 566 Di:ficit iso!e en gonadotropine, 438 Dermatolipom, 284 Deficiencia de brancher, 116 Deficit i~oleen hormone adrenocortico- Dermatomegaly, 233 Deficiencia de carnitina palmitil transferase, 125 trope, 26 Dermatorrhexis cutis hypcrelastica, 338 Deficwncia de enteroquinasa intestinal, 533 Di:ficit isoli: en hormone de croissance, 447 DFRMO-CHONDRO-CORNFAL DYS- Deficiencia de epimerasc, 357 Deficit isolC en thyrotropine, 949 TROPHY OF FRAN<;:OIS, 282 Deficiencia de fructosa- 1-fosfato aldolasa, Di:ficit musculaire en carnitine, 124 Dermoid cyst of stomach, 914 395 Deficit primaire en lactase, 567 DERMOID CYST OR TERATOMA OF Deficiencia de fructose-] ,6-difosfatasa, 396 Dcformaci6n de Sprengel, 901 HEAD AND NECK, 283 Deficienda de glue6geno-sintetasa, 424 Deformidad crancana tri-lobulada, 555 Dermoid cysts of nose of both skin and Deficiencia de iodotirosina deiodonasa, 543 Deformity with mesomelic dwarfism, 308 dural origin, 722 Deficiencia de nucle6sido fosforilasa, 729 Degeneraci6n de conos y bastones, 201 Dermoid cysts, orbital and periorbital, 761 Deficiencia de piruvato carboxilasa con Degeneraci6n esponjosa de Ia substancia Dermoid of the cornea, 591 acidemia l.ictica, 850 blanca cerebral, 115 Dermoid Zysten oder Teratome von Kopf Deficiencia de piruvato deshidrogenasa, 851 Degeneraci6n hepatolenticular, 469 und Hals, 283 Dcfidenda de tripsinOgeno, 973 Degeneraci6n hialoidea retineana de Wagner, Dermoide der MundhOhle, 760 Dcficiencia de l 7 estero ide 20 desmolasa, 479 Dermoide du limbe, 591 904 Degenerad6n macular congCnita, 622 Dermoide limbal, 591 Deficiencia en galactoquinasa, 402 Degeneraci6n 6ptico-c6cleo-dentata, 759 Dermoids of the head and neck, 283 Deficiencia en glucosa-6-fosfato dehidro- Degeneration der Opticus-, cochlearis-, Dermoids, oral, 760 genasa, 420 Dentatun- und Schleifensysteme, 759 DERMOLIPOMA, 284 Deficiencia en inmunoglobulina A, 525 Degeneration hyaloide de Ia ri:tine, 479 DeSanetis-Cacchione syndrome, 1 004 Deficiencia en maltasa .icida, 11 Degeneration von Z.:ipfchen und St Diabete sucre juvenile, 549 polydactyly (see Section III, Table Displasia espOndilocostal, 896 Diabete sucre juvenile avec atrophic optique XXIX) Displasia esp6ndiloepifisaria congenita, 897 et surdite, 550 polysyndactyly, 13, 22, 771, 923 Di~plasiaesp6ndiloepifisaria tardia, 898 Diabetes insipida nefrogenica, 287 prenatal amputation of, 874 Displasia esp6ndilotoraxica, 900 Diabetes insipidus and optic atrophy, 550 progressive shortening of, 21 Displasia fibrosa monostOtica, 390 DIABETES INSIPIDUS, VASOPRESSIN- prominent tip of, 409 Displasia fibrosa poUOstica, 391 RESISTENT, 287 short distal phalanx, 66, 156, 263 Displasia frontometafisaria, 394 Diabetes mellitus and optic atrophy, 550 spatulated distal phalanx, 66 Displasia hidrOtica ectrodCrmica, 334 Diabetes mellitus juvenil, 549 stocking syndactyly, 14 Displasia mesCnquimatica de PuretiC, 644 Diabetes mellitus juvenil, atrofia 6ptica syndactyly (also see Section III, Table Displasia mesorrliCiica, tipo Langer, 646 y sordera, 550 XXIX) Displasia mesomiClica, tipo Nievergelt, 647 Diamond-Blackfan syndrome, 51 fenestrated soft tissue, 874 Displasia mesomiClica, tipo Reinhardt- Diapers of 2nd and 3rd fingers, 229 Pfeiffer, 648 blue-stained, 974 osseous, 14, 22,874,923 Displasia mesomietica, tipo Werner, 649 oil-stained, 597 tapered, 66, 159,166, 190,940 Displasia 6culo-auriculo-vertebral, 735 Diaphragm abnormally high, 288 thick, I, 158, 190 Displasia oftalmo-mandibulomClica, 749 DIAPHRAGM, EVENTRATION, 288 unilateral shortening of, 813 Displasia pseudoacondropli.stica, 828 Diaphragm, herniation of stomach above, Digital and renal anomalies and deafness, Displasia pulpar, 843 471 264 Displasia tonixica asfixiante, 91 Diaphragmatic esophageal hiatus hernia, 471 Digital anomalies and microphthalmia, 662 Displasias del oido interno, 315 DIAPHRAGM ATIC HERNIA, 289 Digital constrictions, keratopachydermia and Displasie pulpaire, 843 Diaphysiire Dysplasie, 290 dcafne~~.259 Disqueratosis intraepitelial, 538 Diaphyseal aclasis, 685 Digital, ear, nose anomalies, gingival fibro• Disseminated lipogranulomatosis, 598 Diaphyseal and cranial dysplasia, 224 matosis, and hepatosplenomegaly, 409 Distal muscular dystrophy, 690 DIAPHYSEAL DYSPLASIA, 290 Digitofacial-mental retardation syndrome, DistelfOrmige Pulpa, 937 Diarrhea, congenital chloride, 148 119 D1STICHIASIS, 296 Diarrhea (see Section III, Table XXXIV) Digitotalar dysmorphism, 980 Distichiasis congenita, 296 Diarrhee chloree, 148 Dilantin syndrome, 382 Distichiasis congenita vera, 296 Diastema de los incisivos media nos (Marcador), Dilazericrte Ziihne, 929 Distomolar, 936 291 Diplegia cspistica, 295 Distonla de torsiOn, 957 Diastema der Mittleren Schneideziihne, 291 Diplegia facial congCnita, 376 Distonla, sordera neurosensorial y posible DIASTEMA, MEDIAN INCISAL (MARKER), Diplegia, infantile spastic, 295 deterioro intelectual, 266 291 DIPLEGIA, SPASTIC, 295 Distorted limb dwarfism, 798 DIASTEMATOMYELIA, 292 DiplCgie faciale congenitale, 376 Distrofia corneana congCnita hereditaria, 207 Diasteme de Ia mOelle (Cpiniere), 292 DiplCgie spastique, 295 Distrofia corneana de Reis-Bticklers, 215 Diasteme des incisive~medianes, 291 Diplomyelia with bony ~pur,292 Distrofia corneana en enrejado, 211 Dia~trophicdwarfism, 293 Direkter Abgang der a. vertebralis aus der Distrofia corneana endotelial, 208 DIASTROPHIC DYSPLASIA, 293 Aorta, 527 Distrofia corneana erosiva recurrente, 214 Diastrophischer Zwergwuchs, 293 Disautonomia, 307 Distrofia corneana posterior polimOrfica, 213 DICARBOXYLIC AMINOACIDURIA, 294 Discondrostosis, 308 Distrofia corneana y pCrdida de la audiciOn Diencephalic parotitis, 730 Discoria, 309 neurosensorial progresiva, 206 Dientes anquilosados, 927 Discrete subaortic stenosis, 916 Distrofia cristalina-corneana de Schnyder, Dientes dilacerados, 929 Disgcnesia ovirica familiar, 436 216 Dientes en inclusiOn, 932 Disgenesia tiroidea, 946 Distrofia dermo-condro-corneana de Dientes fusionadm, 930 Disino,.tosis cr.::ineo facial, 227 Franyois, 282 Dientes geminados, 931 Dislocation of ocular lens, 584 Distrofia epitelial de la cOrnea, 210 Dientes nevados, 935 Disorder of uric acid metabolism and central Distrofia granular de Ia cOrnea, 209 Dientes supernumerarios (Marcador), 936 nervous system function, 588 Distrofia macular de Ia cOrnea, 212 Diffuse capillary or cavernous hemangioma Disorientation, 820 Distrofia muscular distal, 690 of liver, 466 Disosteoesclerosis, 310 Distrofia muscular escipulo~pe!vica,691 DiGeorge syndrome, 943 Disostosis acrofacial, 17 Distrofia muscular Oculofaringea, 692 Digit (also see Finger, Toe, Thumb, Joints, Disostosis cr.::ineo-facial, 225 Distrofia muscular pseudohipertrOfica del and Section III, Table XXIX) Disostosis craneo-facial con hiperplasia adulto, 687 absence of one or more (see Ectro• diafisaria, 226 Distrofia muscular pseudohipertrOfica infantil, dactyly) Disostosis mandibulofacial, 627 689 amputation of, due to gangrene or sepsis, Disostosis metafisaria, retardo mental y Distrofia muscular pseudohipertrOfica rew 259 sordera de conducciOn, 250 cesiva autos6mica, 688 asymmetric length of, 185 Displasia acromesomielica tipo, Campailla- Distrofia tapetocoroidea, 925 ball-like toe with grooves at attachment, Martinelli, 19 Disturbance of histidine metabolism, 472 8 Displasia acromesomielica, tipo Maroteaux, 20 Disturbed eruption of teeth, corneal dys- broad, 308, 578 Displasia acro-pCctoro-vertebral, 22 trophy and gingival fibromatosis, 408 clubbed, 409, 938 Displasia cleidocraniana, 185 Diverticula of canaliculus, 844 completely webbed hand, 14 Displasia oondroectodCrmica, 156 Diverticule de l'estomac, 911 cylindrical, 570 Displasia cr.::ineo-carpo-tarsal, 223 Diverticule de I'oesophage, 367 extra digit, poorly formed, 22, 187, Displasia cnineo-diafisial, 224 Diverticule de Meckel, 633 262, 662, 814 Displasia cr3.neo metafisial, 228 Diverticule ventriculaire, 988 extra digit, well formed, 814 Displasia de 1a dentina coronaria, 277 Diverticula de Meckel, 633 irregular, asymmetric shortening, 162 Displasia de la dentina radicular, 278 Diverticula del es6fago, 367 knobby, 557 Displasia de Ia retina, 866 Divertlculo g3.strico congCnito, 911 long, 85, 166, I 83,557,629 Displasia del peronC y braquidactilia, 392 Diverticula ventricular, 988 mild shortening of, 358 Displasia dentino 6sea, 280 Diverticulum of common bile duct, 149 mitten syndactyly, 14 Displasia diafisiaria, 290 Diverticulum of gallbladder, 404 narrow, 85 Displasia cctodermica anhidrOtica, 333 Diverticulum of larynx, 575 overlapping, 159, 160, 168 Displa~iaepifisaria hemimClica, 311 Diverticulum of left ventricle, 988 partial absence, 874, 1001 Displasia epifisaria mUltiple, 358 Diverticulum of right ventricle, 988 1144 Index Division palatine, micrognathie et glossa• Diinndarmatresie (-stenose), 531 Dysplasia cleidocranialis, 185 ptosis, 182 DUODENAL ATRESIA OR STENOSIS, Dysplasia, craniodiaphyseal, 224 Division palatine au bcc-de-Hevre et fossettes 300 Dysplasia, craniometaphyseal, 228 des tevres, 177 Duodenal duplication, 532 Dysplasia, diaphyseal, 290 Doggennase, 724 Duplicaci6n del colon, 194 DYSPLASIA EPIPHYSEALIS HEMIMELICA, Dominant erblicher HOrverlust nieder• Duplicaci6n del es6fago, 368 311 frequenter Bereiche, 256 Duplicaci6n gistrica, 912 Dysplasia epiphysealis punctata (congenita), Dominant osteopetrosis, 779 Duplicaci6n intestinal, 532 153 Dominante olivopontozerebellare Atrophic Duplicaci6n nasal, 725 Dysplasia epiphysialis multiplex, 358 mit ophthalmoplegic und Demenz, Duplication colique, 194 Dysplasia, osteodental, 185 744 Duplication de l'cstomac, 912 Dysplasia pulpac, 843 Dominante olivopontozerebellare Atrophic, Duplication de l'ocsophage, 368 Dysplasia spondy\oepiphysaria congenita, Typ Menzel, 742 Duplication intestinale, 532 897 Dorninante olivopontozerebellare Atrophic, Duplication of distalllq, 161 Dysplasia spondyloepiphysaria tarda, 898 Typ Schut-Haymaker, 743 Duplication of distal14q, 165 Dysplasie acromesome!ique, type Campailla• Dominante olivopontozerebellare Atrophic Duplication of gallbladder, 404 Martinelli, 19 und Retina degeneration, 745 Duplication of nose, 725 Dysplasie acromesomelique, type Marotcaux, Dominanter Zwergwuchs Typ Levi, 305 Duplication ofproximall4q, 166 20 Dominantly inherited dwarfism of Levi, 305 Duplicite labiale, 594 Dysplasie acropectoro-vertebrale, 22 Donohue syndrome, 587 Duplikation der Magen, 912 Dysplasie chondro-ectodermique, 156 Doppellippe, 594 Duplikation des Oesophagus, 368 Dysplasie c!eidocraniennc, 185 Doppelnase, 725 DUPUYTREN CONTRACTURE, 301 Dysplasie cranio-carpo-tarsienne, 223 Doppelte Ausstrombahn des rechten Durch Ankylose von Hammer und Amboss Dysplasie cranio-diaphysaire, 224 Ventrikels mit anterior gelegenem bedingte Schalleitungsschwerh6rigkeit, Dysplasie cranio-metaphysaire, 228 Ventrikelseptumdefekt, 297 244 Dysplasie de Ia dentine corona ire, 2 77 Doppelte Ausstrombahn des rechten Dwarfism and cortical thickening of tubular Dysplasie de Ia radiculaire, 278 Ventrikels mit posterior gelegenem bones, 976 Dysplasie de Ia dentition et de l'os, 280 Ventrikelseptumdefekt, 298 Dwarfism, diastrophic, 293 Dysplasie der Innenohr, 315 Doppelter Aortenbogen, 75 DWARFISM, LARON, 302 Dysplasie diaphysaire, 290 Double, aortic arch, 75 DWARFISM, PANHYPOPITUITARY, 303 Dysplasie du perone et brachydactylie, 392 Double inlet left ventricle with ventricular DWARFISM, PITUITARY WITH ABNOR- Dysplasie ectodermique anhydrotique, 333 inversion, 286 MAL SELLA TURCICA, 304 Dysplasie ectodermique hydrotique, 334 Double inlet left ventricle without ventric• Dwarfism, polydactyly and dysplastic nails, Dysplasie epiphysaire hemimelique, 311 ular inversion, 286 156 Dysplasie fibreuse monostotique, 390 Double lip, blepharochalasis and nontoxic Dwarfism, Seckel, 881 Dysplasie fibreuse polyostotique, 391 thyroid enlargement, Ill DWARFISM, SNUB-NOSE, 305 Dysplasie frontometaphysaire, 394 Double outlet left ventricle with intact DYGGVE-MELCHIOR-CLAUSEN Dysplasie mescnchymale-syndrome de ventricular septum and atresia of right SYNDROME, 306 PuretiC, 644 DYSAUTONOMIA, 307 ventricular infundibulum, 581 Dysplasie mesometique, type Langer, 646 Dyscephalia oculomandibulofacialis, 738 Double outlet left ventricle with ventricu- Dy.splasie mesomelique, type Nievergelt, 647 Dyscephaly with congenital cataract and lar septal defect, 581 Dysplasie mesomelique, type Reinhardt- hypotrichosis, 738 Double outlet left ventricle with ventricular Pfeiffer, 648 Dyschondroplasia, 345 septal defect and pulmonary stenosis, Dysplasie metaphysaire de Pyle, 847 Dyschondroplasia and hemangiomatosis 581 Dysplasie oculo-auriclo vertebrate, 735 (some cases), 346 DOUBLE OUTLET RIGHT VENTRICLE Dysplasie oculo-dento-{)sseuse, 737 DYSCHONDROSTEOSIS, 308 WITH ANTERIOR VENTRICULAR Dysplasie oculo-mandibulaire, 749 DYSCORIA, 309 SEPTAL DEFECT, 297 Dysplasie polyepiphysaire Dyscrania pygophalangea, 662 dominante, 358 DOUBLE OUTLET RIGHT VENTRICLE Dysplasie pseudo-achondroplastique, Dysencephalia splanchnocystica, 634 828 WITH POSTERIOR VENTRICU• Dysplasie retinienne, Dysfibrinogenamie, 4 866 LAR SEPTAL DEFECT, 298 Dysplasie spondylo-costale, 896 Dysgammaglobulinemia, 521 ''Double uterus," 684 Dysplasie spondylo--ipiphysaire congenitale, Dysgammaglobulinemia type IV, 525 Down syndrome, 171 897 Dysgenesie ovarienne, 436 Doyne honeycombed retinal degeneration, Dysplasie spondylo-epiphysaire tardive, 898 Dysgenesie thyroii:lienne, 946 734 Dysplasie spondylo-thoracique, 900 Dysgenesis mesostromal, 439 Drepanocytic anemia, 886 Dysplasie thoracique asphyxiante, 91 Dysgenesis neuroepithelia lis retinae, 43 Drooping of upper eyelid (see Section III, Dysplasie tibiale avec anomalies digitales, Table XXIV) Dysgenesis of inner ear, 315 Dyskeratosis, intraepithelial, 538 649 at birth, 834 Dysplasies de l'oreille interne, 315 at puberty, Ill Dyskorie, 309 Dysontogenetic cyst, 760 Dysplastic retina, 866 at rest, 548 Dyspnea (see Section III, Table XXXI) bilateral, 750 DYSOSTEOSCLEROSIS, 310 Dysostose acro-faciale, Dyssynostose cranio-faciale, 227 intermittent, 48, 155 17 Dysostose cranio-faciale, 225 Dystonia musculorum deformans, 957 ipsilateral to facial nerve palsy, 377 Dysostose cranio-oculo-digitale, 769 Dystonie, Schalleitungs-Schwerh6rigkeit, pseudoptosis, 155, 889 Dysostose mandibulofaciale, mOglicherweise geistige Retardierung, unilateral, 155 627 Dysostose metaphysaire, 266 with zo hypertrophy, 788 deficience mentale et surdite de conduction, 250 Dystonic, surdite sensorielle, deficit intellect• Drug, adverse reaction, 7, 420,820,864 Dysostosis, acrofacial, 17 uel inconstant, 266 Drugs ingested by biologic mother during Dysostosis acrofacialis, 17 Dystrophia dermato-chondro-cornealis patient's prenatal life (see Section Dysostosis craniofacialis, 225 (Fran~ois),282 III, Table XXII) Dysostosis enchondralis meta epiphysaria Dystrophia myotonica, 702 Drusen ocular, 734 (Catel-Hempel type), 155 Dystrophic cervico-oculo-faciale, 142 Duane retraction syndrome, 889 Dysostosis mandibulofacialis, 627 Dystrophic corneenne et surdite de per- DUBOWITZ SYNDROME, 299 Dysphagia, 12, 63, 74, 75,103, 117, 127, ception progressive, 206 Duchenne muscular dystrophy, 689 180, 181,275,283,363,368,401, Dystrophic corneenne congenitale hereditaire, Duhamel anomalad, 987 503, 572, 575,692, 702, 794, 795, 207 Index 1145 Dystrophie corneenne (en nfseau), 211 EAR LOBE, ABSENT, 320 Ectrodactyly, 65,242,281,336, 337, 375, Dystrophic corneenne erosive, :i rechutes, EAR LOBE, CLEFT, 321 45 I, 459, 592, 700, 813, 818, 875 214 EAR LOBE PIT (MARKER), 322 Ectrodactyly and anonychia, 65 Dystrophie corneenne type Reis-BUcklers, EAR LOBES, ATTACHED (MARKER), 323 ECTRODACTYLY-ECTODERMAL DYS• 215 EAR LOBES, HYPERTROPHIC THICK- PLASIA-CLEFTING SYNDROME, Dystrophie dermo-chondro-corneenne de ENED, 324 337 Fran~ois,282 EAR, LONG, NARROW, POSTERIORLY Ectropion congCnital, 371 Dystrophie cndotheliale de Ia cornee, 208 ROTATED, 325 EctropiOn congCnito de los p:irpados, 371 Dystrohpie epitheliale de Ia cornee, 210 EAR, LOP, 326 Eczema, thrombocytopenia, diarrhea, and Dystrophie granulaire de Ia cornee, 209 EAR, LOW-SET, 327 infection syndrome, 523 Dystrophic maculaire de Ia cornee, 212 Ear malformations and lateral (or branchial) Edentate hypertrichosis, 507 Dystrophie maculaire ponctuee, 400 cervical fistulas and deafnes._, 247 Edwards syndrome, 160 Dystrophie musculaire distal, 690 Ear, middle, tumor of, 12, 145, 150, 318, EEC syndrome, 337 Dystrophie musculaire oculopharyngee, 692 664,712 EHLERS-DANLOS SYNDROME, 338 Dystrophie musculaire pseudohypertrophique EAR, MOZART (MARKER), 328 18-Hydroxylase-Mangcl, 905 de !'enfant, 689 Ear, nose, d1gital anomalies, gingival fibro• 18-Hydroxysteroid-Dehydrogenease-Mange I, Dystrophie musculaire pseudohypertrophique matosis, and hepatosplenomegaly, 906 (de transmission autosomique), 688 409 Einengung des rechten Ventrikels oder seiner Dystrophie myotonique, 702 Ear pits and external ear malformations Ausflussbahn, 731 Dystrophie polymorphe posterieure de Ia with deafness, 24 7 Einrollen dcr Zunge, 951 corn6e, 213 EAR PITS (MARKER), 329 Eimeitige Nierenangcne~ic,857 Dystrophie tapCto-choroidienne, 925 EAR, PROMINENT ANTHELIX, 330 Linsei tige Schallem pfindung~<>chwcrhOrigkci t, Dysversion of optic disk, 757 EAR, SMALL WITH FOLDED-DOWN 274 HELIX, 331 Ekchondrose des Ohrliippchens, 317 Ear wax grey or brown, 141 Ektoderma\e Dy~plasiemit fehlende<> Ear, with folded-down helix (incompletely Papillarmuster, Nagelvcrandcrungen E developed), 331 und Vierfingerfurche, 102 Ear (also see parts of external ear, Hearing Eardrum Ektopie der Ohrmuschel, 316 loss and Section III, Table XXV) pink flush, 787 Ektopie der Triinendrtise, 564 caulit1ower-like deformity of, 293 pulsating red bulge behind, 530 Ektrodactylie, 336 crumpled, 85, 664 Earlobe (also see Ear) Ektrodaktylie-Ektodermale Oysplasie- cup-ear, 254, 314, 388 at right angle to head, 157, 314 Spalbyndrom, 337 defect of overall structure of, I, 88, 157, attachment of, 323 Ekzem-Thrombozytopenie-Diarrhoe-Syn· 158,162,163,166,167,168,505, disproportionately large, 157,324,619 drom, 523 526,634,662, 727, 735, 754, 987 elongated, 98 Elastoma intrapapillare perforans verruci- deficient cartilage, 374 fibrotic in center of, 324 forme Miescher, 339 displaced, 316 hypoplastic, 162,320 Elasto5c pcrforantc serpigneuse, 339 dysplastic, 13, 121, 142, 160, 164, 182 longitudinal cleft of, 321 Elastosis dystrophica, 832 227,231,313,327,374,389,592, pit 1 mm deep in, 322 ELASTOSIS PERFORANS SERPIGINOSA, 603, 627. 636, 823, 883, 943 thickened, 244, 324 339 folded, 229, 254 unspecified defect in, 98, 3 76, 664 Elbow large, 97,140,157,158,167,170,263, vertical groove in, I 04 crepitation of, 121 313,326,587,619,775,856,967, Early hypercalcemia syndrome, 999 decreased extension of, 89,477,704, lop-ear, 72, 158,247 Early-onset alactasia, 566 854 pink-blue discoloration of, 313 Early-onset lymphedema, 614 decreased flexion of, 477,560, 854 posteriorly rotated, 121,227, 325, 327, Ears, malformed and low-set, with con- decreased pronation-supination of, 20, 388,603, 754 ductive deafness, 254 89, 450,455, 648, 704, 854 preauricular fistula, 24 7, 627, 735 EBSTEIN ANOMALY, 332 decreased range of motion of, 10, 16, 20, preauricular pit, 164, 247, 329, 596 Ebstein anomaly of tricuspid valve, 332 85, 98, 128, 129, 510,646, 647.674, preauricular tag, 163,247,374,457,544, Echter Hermaphroditismus, 971 675,828, 847 591, 627. 629, 664, 735 Ectodermal dysplasia and cleft lip, 179 decreased supination of, 647 protruding, 190,263,388,967,999 ECTODERMAL DYSPLASIA, ANHI- extension contracture of, 20, 88, 749 pulsatile, 313 DROTIC, 333 fixation of forearm in pronation, 854 ~mall,97, 98,121,168,171,229,231, Ectodermal dysplasia, Berlin type, 105 flexion contracture of, 88,121,242, 247,326,327,331,457,506,664, ECTODERMAL DYSPLASIA, HIDROTIC, 450, 4 70, I 000 860 334 increased carrying angle of, 98, 139, 308, unilateral posterior displacement of, 735 Ectodermal dysplasia with hypotrichosi~, 685,704,720, 791,977 unilaterally undifferentiated, 457 hypohidrosis, defective teeth and un~ prenatal onset of contracture of, 629 EAR, ABSENT TRAGUS, 312 usual dermatoglyphics, 102 prenatal onset of dislocation of, 570 EAR, ARTERIOVENOUS FISTULA, 313 Ectodermal polydysplasia, 333 webbing of, 704 ECTOPIA CORDIS, 335 Ear, arteriovenous fistula of external, 313 Eldridge syndrome, 251 EAR, CUPPED, 314 Ectopia del cristalino y de Ia pupila, 583 Ellis·van Creveld syndrome, 156 Ear, defect of middle (also see parts of mid- Ectopia lentis et pupillae, 583 Elsahy-Waters syndrome, 118 dle ear), 316,377,664 Ectopia of macula, 620 Embriopa tia por radiaci6n, 383 Ear, dysgenesis of, 664 Ectopic anus, 69 Embriopatia por talidomida, 386 EAR, DYSPLASIAS, INNER, 315 Ectopic gallbladder, 404 Embriopati'a por warfarina, 389 EAR, ECTOPIC PINNA, 316 Ectopic pinealomas, 188 Embryofetales Alkohol Syndrom, 379 Ear, endolymphatic duct and sac, defect of Ectopic placement of pinna, 316 Embryoma of head or neck, 283 inner, 315 Ectopie cardiaque, 335 Embryopathie causCe par le thalidomide, Ear, enlarged scapha and lobule, 619 Ectopie des glandes lacrymales, 564 EAR, EXCHONDROSIS (MARKER), 317 Ectopic du cristallin et de Ia pupille, 583 386 Ear, exchondrosis of pinna, 317 Ectopie du pavilion de \'oreille, 316 Fmbryopathie due Ia radioactivitC, 383 EAR EXOSTOSES, 318 Ectrodactilia, 336 Embryopathie due l'hydantorne, 382 Ear, t1oppy helix of, 326 Ectrodactilia, displa~iaectodCrmica y l:mbryopathie due Ia warfarine, 389 EAR, HAIRY, 319 sindrome de acrofisuras, 337 Embryopathie due le trimethadione, 388 1146 Index Embryopathies et foctopathics dues ii ENDOCRINE NEOPLASIA II, MULTIPLE, Epitelioma escamoso mUltiple autocicatrizante, l'aminophtt:;rinc, 380 351 359 EMG syndrome, I 04 ENDOCRINE NEOPLASIA III, MULTIPLE, Epitheliale Hornhautdystrophie, 210 Emotional instability, 307,384,472,478, 352 Epithelioma adenoids cysticum, 235 823 Endogenous hypertriglyceridemia, 500 Epithelioma multiple a cellules squameuses, EmphySemc familial, 39 Endokard-Fibroelastose des linken Ventrikels, 359 ENAMEL AND DENTIN DEFECTS FROM 348 EPITHELIOMA, MULTIPLE SELF-HEAL- ERYTHROBLASTOSIS FETALIS, Endokard-Fibroelastose des rechten Ventri• ING SQUAMOUS, 359 340 kels, 349 Epulis, 360 ENAMEL AND DENTIN DEFECTS FROM Endolymphatic hydrops, 248 EPULIS, CONGENITAL, 360 TETRACYCLINE, 34 I Endomykardfibrose des linken Ventrikels, Erblicher, progressiver HOrnervlust ftir hohe Enamel and dentin staining from erythro• 353 Frequenzen, 269 poietic porphyria, 821 Endomykardfibrose des rechten Vcntrikels, Eritema palmo-plantar, 792 Enamel hypocalcification, onycholysis and 354 Eritroqueratodcrma variable, 361 hypohidrosis, 45 ENDOMYOCARDIAL FIBROSIS OF LEFT Erythema migrans lingua, 954 ENAMEL, HYPOPLASIA, 342 VENTRICLE, 353 Erythema nuchae, 715 Enamel hypoplasia and hypomaturation ENDOMYOCARDIAL FIBROSIS OF RIGHT Erythcme palmare hereditarium, 792 with taurodontism, curly hair and VENTRICLE, 354 Erytheme palmo-plantaire, 792 splitting of superficial layers of nails, Endophytum type retinoblastoma, 870 Erythroblastosis fetalis and staining of 965 Endostosis cranii, 498 enamel and dentin, 340 Enamel hypoplasia, taurodontism, tight Endothelial corneal dystrophy, 208 Erythrocyte malate dehydrogenase super- curly hair, and cortical sderostcosis, Endotheliale Hornhautdystrophie, 208 natant, 625 965 Endothelioma capitis of Kaposi, 235 Erythrodontia, 821 Enamel shelf, 340 Enfermedad de Ebstein, 332 Erythrogenesis impcrfccta, 51 Fnanismo de Laron, 302 Enfermedad de Fabry, 373 Erythrokeratoderma figurata variabilis, 361 Enanismo diastr6fico, 293 Fnfermedad de Gaucher, 406 Erythrokeratoderma progressiva, 361 Enanismo familiar hipofisario con silla turca Enfermcdad de Hartnup, 453 ER YTHROKERATODERMIA, VARIABLE, anormal, 304 Enfermedad de Kyrle, 561 361 Enanismo metatr6fico, 656 Enfcrmedad de Nicmann-Pick, 717 Ervthrokeratodermia variabilis Mendes da Enanismo panhipopituitario, 303 Enfermedad de Norrie, 721 - Costa, 361 Enanismo parastrem Estenosis de la vena pulmonar, 204 small, 630, 663, 893 reduced ability to close, 371 Estenosis del es6fago, 369 spheric, 630, 663, 708, 893 skin continuous over eyeball, 3 Estensosis fibrosa suba6rtica, 9 J 6 thickened anterior cortex, 585 small, 389 Estenosis infundibular del ventriculo Eye lens cataract (also see Section III, Table spasmodic winking, 414, SIS derecho, 731 XXIV) thickened, 190, 788 Estenosis mitral, 669 anterior polar, 133, 250,585 tumor of, 142,247,457,635,712,1004, Estenosis muscular suba6rtica, 917 capsular, 133 1005 Estenosis nasofaringea, 707 embryonic nuclear, 132 underdeveloped lower, 375 Estenosis o atresia intestinal, 531 nuclear, 402 upper easily everted, 338 Estenosis pi16rica, 848 posterior polar, 133,201,585, 736 upper elevates on inspiration, 548 Estenosis pulmonar perifCrica mUltiple, present at birth, 106, 26I, 635, 708 upper protruding over lower, 634 sordera mixta, braquitelefalangia y secondary, 449 white plaques on, 538 calcificaci6n de los cartilagos, 263 variably shaped, 132 yellow plaques on, 488,495 Estenosis subgl6tica, 919 white plaque in, 845 EYELID ECTROPION, CONGENITAL, 371 Estenosis tricuspidea, 970 Eye, muscle weakness, 142, I88, 229, 344, EYELID ENTROPION, 372 Estenosis tubular, 976 376,735,744,751,752,753,834, Ethmocephaly, 203 889 Eulcnburg disease, 796 Eye, orbital roof (also see Supraorbital Eunuchoid habitus, 93, 438 ridge) F Euryopia, 504 bony defect, 712 Eustachian tube atresia, 370 trunk-like process attached, 824 F syndrome, 22 Eustachian tube cysts, 370 Eye, socket (also see Eye, orbital roof) Fabry-Anderson disease, 373 EUSTACHIAN TUBE DEFECTS, 370 fused, 234 FABRY DISEASE, 373 Eustachian tube, defect of, 3I6 hyperostosis, 3I8 Face (also see parts and Section HI, Eustachian tube tumors, 370 large, 765 Table XXVI) Eventraci6n del diafragma, 288 low position of, 735 aged appearance before puberty, 189 :Eventration diaphragmatique, 288 shallow, 67,226,389 asymmetric face,157, 163, 167,227, Eversion of sacculus, 573 small, 52 229,281,284,326,391,735,952 Eversion of ventricle, 573 structural anomaly, 375,565 bird-like, 257 Exchondrosis of pinna, 317 surrounded by deep furrow, I OS chubbiness over cheeks, 154, 223, 303, ExcrCtion urinaire du disulfide {3 mercap• Eye, undersized, 661 355,425,426,427,447,539 tolactate-cystt~ine,106 Eyeball (also see Section III, Table XXIV) coarse, 18,644,671,672,673,675, Exencephaly, 52 atrophy, 550,737 676, 677, 679,680, 788, 1000 Exocondrosis del pabell6n auricular coloboma, 101,159,281,284,574,634 coarse face at birth, 672 (Marcador), 3I7 deep-set, 159, 629 coarse face with onset in infancy, 676 Exogenous hypertriglyceridemia, 489 defect of, I69, 526,697,821 craniofacial disproportion, 302, 825, Exomphalos, 748 defect of ocular tissue, 733 846, 887 Exomphalos-Makroglossie-Gigantismus- fused, I 58, 168, 234 craniofacial dysostosis, 470 Syndrom, I 04 pain in, 126, 2I2, 870 cretinoid, 542,543,947,948 Exophytum type retinoblastoma, 870 protrusion of, 52, 221, 225, 226, 283, fixed, mask-like, 155, 223, 376, 629, 746 Exostoses de !'oreille, 318 355,539,555,557,712,761,762, flat, 122, 153, 154, 155, 168, 171, 557, Exostoses of external auditory canal, 318 763, 764, 765, 775, 779, 825,875 823, 897 Exostosis auriculares, 318 retracted, 142, 189,223, 736 long, 630, 1001 Expanded rubella syndrome, 384 seemingly shrunken, 783, 872 midline depression of, 635, 874 Exstrophy of the cloaca, 193 small (see Section III, Table XXIV) narrow, 112, I63, 630,881, 1001 Extensor pollicis brevis or longus, aplasia or unilaterally small, 457 pinched, lethargic, 189, 4I2 hypoplasia, 175 Eyeball, tumor (also see Orbital tumor and prominent facial bones, 168, 3I3 External ankyloblepharon, 60 Periorbital tumor) round, moon, 114, 139, 163, 170,447, External ear aneurysm by anastomosis, 3I3 epibulbar dermoid, 735 554, 557' 830, 900 External ear arteriovenous fistula, 313 lipodermoid, 593 small, 122, 155 External genitalia, unspecified defect of, I66, pink-white, 591 swollen, edematous, 9, 946 173,883,987 upper temporal quadrant, 284 triangular, 78,587,777,876,887 External ophthalmoplegia and myopia, 750 yellow-white, 284 unusual appearance of, 158, 190, 224, External ophthalmoplegia congenita, 751 Eyelashes, accessory, 296 391, 394,470, 555,603,652,775, Extra lobe sequestration, 6I2 Eyelashes, underdeveloped, 623 779,880,883, 939,999 Extraadenoidal cysts, 706 Eyelid (also see Drooping of upper lid and Face, diffuse symmetric lipomatosis of, 601 Extrahepatic biliary atresia with discontinuity Section III, Table XXIV) Facial and cranial dysostosis, 225 of bile duct' (correctable), 110 absent, 3 Facial angioma with epsilateral small calvaria, Extralobiire Lungensequestration, 612 blepharochalasis, I 70 915 Extrapulmonic lobe, 611 cleft of, 162, 247, 375,627, 635, 735, FACIAL CLEFT, LATERAL, 374 Exudative central detachment, 622 824 FACIAL CLEFT, OBLIQUE, 375 Eye (see parts and Section III, Table XXIV) epiblepharon, 355, 395, 401 Facial diplegia, 823 Eye absent, 67 eversion of, 371 FACIAL DIPLEGIA, aJNGENITAL, 376 Eye lens eversion of tarsus, 811, 821 Facial diplegia (6th and 7th cranial nerves), abnormal zonules, 733,584 fusion and cleft lip or palate, 176 376 anterior conical projection, 585, 708 fusions, 60, 176, 177, 179, 818 Facial hypoplasia unilateral, 457 cleft of, 585, 732, 733 inability to close completely, 371 Facial nerve paralysis present at birth, 376, dislocation, 28I, 474,583,584,630, inability to close completely with post- 377 663,893, 921 natal onset, 378 FACIAL PALSY, CONGENITAL, 377 lenses and pupils displaced in opposite inability to open to normal extent, 223, FACIAL PALSY, LATE-ONSET, 378 directions, 583 299, 371,629,834 Faciodigitogenital syndrome, 1 posterior conical projection, 585, 708 inflammation of, 443, 706 Factor VIII deficiency, 461 retrolental fibroplasia, 620 inversion of tarsus, 372 Factor IX deficiency, 462 ring reflex on slit-lamp examination, protrusion of lower, 552 Failure to thrive (also see Inanition, Mal• 585 puffy, 139 nutrition and Weight loss), 27, 62, 1148 Index Failure to thrive - Continued Familiare Ovarialdysgenesie, 436 FETAL CYTOMEGALOVIRUS SYN• 121, 138, 139, 154, 167,237, 363, Familiare statische Ophthalmoplegie, 751 DROME, 381 366,368, 376,379,381, 385, 388, Familiare symmetrischelipome, 600 Fetal damage from hydantoin anticonvul• 389,395,419,423,431,471,491, Familiarer Emphysem, 39 sants, 382 499,533,534,566,569,576,587, Familiarer Glukokortikoid-supprimierbarer Fetal damage from oxazolidine anticonvul• 593,598,603, 643,655, 717, 780, Hyperaldosteronismus, 484 sants, 388 812, 825, 829, 850, 858, 863, 885, FamilHirer hypophysarer Zwergwuchs mit Fetal damage from 4-amino-pteroyl-glutamic 891, 905, 918, 920,943, 973, 974, abnormer sella turcica, 304 acid, 380 978 Familiarer, periodisch auftretender Schwindel Fetal face syndrome, 876 Fainting, 80, 123, 127, 805 und HOrverlust, 248 FETAL HYDANTOIN SYNDROME, 382 Fairbank disease, 358 Fanconi-Syndrom, 864 FETAL RADIATION SYNDROME, 383 Fallopian tube Farber disease, 598 FETAL RUBELLA SYNDROME, 384 fallopian tube with male gender, 683,904 Farsightedness (also see Astigmatism and FETAL SYPHILIS SYNDROME, 385 rudimentary, 29, 682 Refractive error), I, 229, 250, 777 FETAL THALIDOMIDE SYNDROME, 386 ' small, 437 Fat-induced hyperlipemia, 489 FETAL TOXOPLASMOSIS SYNDROME, Fallot tetrad, 938 Fatal granulomatous disease of females, 442 387 Fallotsche Tetralogie, 938 Fatal granulomatous disease of males, 443 FETAL TRIMETHADIONE SYNDROME, Falta de respuesta a Ia tirotropina, 948 Fatal neonatal hepatic steatosis, 990 388 Falta de respuesta suprarrenal al ACTH Fatty metamorphosis of viscera, 990 FETAL WARFARIN SYNDROME, 389 hereditaria, 25 Favism, 420 Fetales Hydantoin-Syndrom, 382 Familial Addison disease, 25 Favre microfibrillary vitreoretinal dystrophy, Fetales Trimethadion-Syndrom, 388 Familial aldosterone deficiency with en• 479 Fetalgesicht-Minderwuchs Syndrom, 876 zyme defect, 905, 906 Fecal soiling absent (also see Obstipation), Fett-induzierte Hyperlipamie, 489 Familial anhidrosis, 56 192 Fettsucht-Hyperthermie-Oligomenorrhoe- Familial cerebelloolivary degeneration with Feeding difficulties, 24, 25, 40, 121, 138, Parotis-Schwellung, 730 late development of rigidity and 139, 140,161.163, 167, 299, 347, FG syndrome, 7 54 dementia, 744 376,401,406,424,451,499,506 Fibrinogens, abnormal, 4 Familial chronic obstructive lung disease, 39 509, 513,603, 628,823, 991 Fibrocytic disease of pancreas, 237 Familial colloid bodies, 734 Fehlbildungen der Carunculi lacrimales, 130 Fibrodysplasia ossificans progressiva, 700 Familial combined hyperlipoproteinemia, Fehlbildungen der Eustachischen ROhre, 370 Fibro-6lastose du ventricule droit, 349 496 Fehlbildungen der v. hepatica, 468 Fibro-elastose du ventricule gauche, 348 Familial congenital peripheral facial paralysis, Fehlbildungen von Anus und Rektum, 69 Fibroelastosis endoc Fibromatosis gingival con hipertricosis, 410 permanent flexion of, 139, 157, 160, Flowing hyperostosis, 641 Fibromatosis gingival, hipertricosis y fibro• 166, 168, 379,981 Fontanel adenomas mamarios, 412 prenatal amputation, 874 abnormal position of anterior, 722 Fibromatosis gingival y anomalias auriculares progressive shortening of, 21 bulging anterior, 403 y nasales con hepatoesplenomelia, 409 short distal phalanx of index, 22 delayed closure of, 118, 139, 185, 846, Fibromatosis hyalinica multiplex juvenilis, short distal phalanx of 5th, 242 976 411 short 5th, 1, 171, 242, 506, 875, 887, delayed closure of anterior, 775,825, Fibromatosis, pahnar, 301 923 846 Fibromuscular atresia of antrum, 910 short middle phalanx of, 13, 19, 114, large anterior, 401 Fibromuscular subaortic stenosis, 916 823 large posterior, 946 Fibroplasia retrolental, 872 short middle phalanx of index, 22, 392 premature closure of anterior, 121 Fibroplasie r6tro-cristallinicnne, 872 short middle phalanx of 5th, 171,242, prenatal onset of large, 480 Fibrose Dysplasie, 390 621,700,923 rapidly growing tumor of anterior, 711 Fibrose endomyocardiaque du vcntricule syndactyly including 4th, 229 tense, 481 droit, 354 syndactyly, partial of 3rd and 4th, 13, Food, adverse reaction, 423,453, 513, 657 Fibrose endomyoeardiaque du ventricule 169,754,817,923 l'oot, as a unit gauche, 353 syndactyly, partial of 4th and 5th, 737 abducted, 64 7 Fibrose Subaortenstenose, 916 syndactyly to proximal interphalangeal adducted, 648 Fibrosis endomiodrdica del ventriculo joints, 293 broad, 1, 8, 250,445,510, 893, 940 derecho, 354 synostosis, 14, 874, 923 central ray deficiency of, 336, 337 Fibrosis endomiod.rdica del ventrlculo thick, 158, 190 central ray deficiency with syndactyly of, izquierdo, 353 toe-like, 8, 445 336 Fibrosis qulstica, 237 unilateral shortening of, 813 defect of, 282,998, 1001 FIBROUS DYSPLASIA, MONOSTOTIC, Finger flexor tendons, short, 882 disproportionate shortness of, 823 390 FINGERPRINTS ABSENT, 393 foot drop, 143 FIBROUS DYSPLASIA, POLYOSTOTIC, First arch syndrome, 457 long, 137, 189, 587 391 Fissure labiale et palatine-dysplasie ecto• metatarsus adductus, 1, 139 Fibrous subaortic stenosis, 916 dcrmique-anomalies des extremities• metatarsus varus, 791 Fibula oligophrenic, 179 plantar flexed, inverted and abducted, absence of, 875 Fissure labio-palatine avec blepharophi- 161, 170,570, 629,662 angulation of shaft, 648 mosis, 176 rockerbottom, 140, 159, 160, 980 bowing of, 648 Fissure laterale, 374 short, 8, 16, 20,250,358,445,510, dislocation of proximal head, 649 Fissure mediane de Ia lt~vresuperieurc, 595 893, 940 disproportionately long ~haftof, 10,510 Fissure mediane labio-mandibule-linguale, square, 20 short, 19, 20, 122,392,646, 648, 875 636 talipes, 88, 97,158,159,160,164,170, FIBULA DYSPLASIA AND BRACHY• Fissure mentonniere, 146 178,180,182,223,293,338,376, DACTYLY, 392 Fissure oblique de Ia face, 375 380,634,649,754,874,881,882, Fifth phacomatosis, 101 Fissured tongue, 953 897 Finger (also see Digit, Phalanx and Section Fistula arterio-venosa coronaria, 218 talipes cavus, 265, 352,474,676,791, 111, Table XXIX) Fistula arteriovenosa del oldo externo, 313 810,982 absence of, all except one, 336 Fistula a uris congenita, 329 talipes calcaneovalgus, 139 absence of distal phalanx, 21, 114, 1001 Fi~tulaof lacrimal sac, 565 talipes calcaneovarus, 164, 647 absence of 5th, 875 Fistula of palate, 790 talipes equinus, 560 absence of, one or more (see Ectro- Fistula palatina (Marcador), 790 talipes planus, 19, 72, 106, 163, 290, dactyly) Fistula tr3queoeso6gica, 960 338,560,630,648,678,786,791, absence of phalanges of ulnar digits, 981 Fistule arterio-veineuse de l'oreille externe, 823, 882 absence of phalanx of 5th, 262, 923 313 talipes valgus, 8, 290, 445,560, 570,823 brachydactyly (see Section III, Table XXIX) Fistule coronaire arterio-veineuse, 218 Foramen magnum small, 10, 103 broad, 578 Fistule des voies lacrymales, 565 Foramen of Morgagni hernia, 289 broad distal phalanx of, 119 Fistule laryngo-trach6o-oesophagienne, 577 Foramen ovate patent, 139, 182,401 clubbed, 409 Fistule palatine, 790 Forbes-Albright syndrome, 350 curved 2nd, 121 Fistule trachCo-oesophagienne, 960 Forbes disease, 426 defect of distal phalanx, 263 Fisura alveolar mediana del maxilar, 631 Forearm, as a unit defect of shape or size, 821 Fisura del mentOn, 146 bowing of, 308,685, 749 duplication of index, 814 Fisura facial lateral, 374 lateral bony protuberance of, 647 extra bone in soft tissue, 22 Fisura facial oblicua, 375 lateral bowing of, 648 extra index, 814 Fisura labial o palatina con f6veas labiales, progressive shortening of, 128 extra on radial side of hand, 649, 814, 177 short, 16, 380, 853 883,987 Fisura labial o palatina con fusiOn filiforme Forebrain, failure to divide, 158, 168,473 extra on ulnar side of hand, 17, 156, de los p Fossettes de Ia macule, 756 Gait Gemelos siameses, 202 Fossettes labiales, 596 clumsy, 190,478 Geminated teeth, 931 Fotomioclonus, diabetes mellitus, sordera defect of, 223,292, 775 Generalized gangliosidosis, type 1, 431 neurosensorial, nefropatia, y dis• difficult, 818 Genital, renal and middle ear anomalies, 860 funci6n cerebral, 255 on knees, 560 Genital system (see parts and Section III, Four-cusped aortic valve, 81 progressive defect, 295 Table XXXV Fovea mentalis, 146 spastic, 270,295 Genitalia (also see parts and Section III, F6veas auriculares (Marcador), 329 unsteady, 103 Table XXXV) F6veas del disco 6ptico, 756 waddling, 290, 306, 358, 391, 560, 654, ambiguous at birth, 907,908 F6veas o monticulos labiales (Marcador), 687' 689, 828, 899 ambiguous, external, 29, 50, 173, 388, 596 wide-based, 190,270,290 634, 902, 903, 904, 971 Fractures, 310,345,346, 391,406,474, GALACTOKINASE DEFICIENCY, 402 duplication of external, 194, 684 499,516,712,777,779, 780,782, Galactose-glucose malabsorption, 419 female internally, with male gender and 783, 859, 873, 939,965, 1000 Galactose-1-phosphate uridyl transferase ambiguous external genitalia, 634 increase of, 310, 391,474, 712, 777, deficiency, 403 hyperpigmented external, 30, 37, 908 782, 783, 859, 939, 965, 1000 GALACTOSEMIA, 403 internally consisting of wolffian and pathologic, 345, 346,406, 499, 516, Galactosemia-Duarte and Negro variants, miillerian duct derivatives, 971 779, 780, 873 403 small external, 93, 303 Fragilitas ossium, 777 Galaktokinasemangel, 402 small internal, 93 Franceschetti-Jadassohn syndrome, 703 Galaktos GINGIVAL FIBROMATOSIS, COWDEN Glycogen storage disease, type III, 426 Granular cell pseudotumor, 360 TYPE, 4I2 Glycogen storage disease, type IV, ll6 Granular cell schwannoma, 360 GINGIVAL FIBROMATOSIS, DEPIGMEN• Glycogen storage disease, type V, 698 Granular corneal dystrophy, 209 TATION AND MICROPHTHALMIA, Glycogen storage disease, type VI, 427 Granular neuroma, 360 4!3 Glycogen storage disease, type VII, 428 Granu!:ire Hornhautdystrophie, 209 Gingival fibromatosis, depigmentation, Glycogen storage disease, type VIII, 429 Granulation anomaly of leukocytes, 143 microphthalmia, oligophrenia and Glycogen storage disease, type IX, 430 Granulocellular rhabdomyoma, 360 athetosis, 413 GLYCOGEN SYNTHETASE DEFICIENCY, Granulomatosis crOnica de las mujcres, 442 Gingival fibromatosis, digital, car, nose anom• 424 GRANULOMATOUS DISEASE OF FE- alies and hepatosplenomegaly, 409 GLYCOGENOSIS, TYPE I, 425 MALES, CHRONIC, 442 Gingival fibromatosis, di~turbederuption of Glycogeno~i~,type II, 11 GRANULOMATOUS DISEASE OF MALES, teeth and corneal dy<;trophy, 408 GLYCOGENOSIS, TYPE Ill, 426 CHRONIC, 443 Gingival fibromatosis, hypertrichosis and Glycogenmis, type IV, 116 GRANULOSIS RUBRA NASI, 444 fibroadenomas of breasts, 412 Glycogenosis, type V, 698 Grasp reflex retained into childhood, 413 Gitlin form of alymphopenic immunologic GLYCOGENOSIS, TYPE VI, 427 Great arteries, inversion of ventricles with deficiency, 524 GLYCOGENOSIS, TYPE VII, 428 transposition of, 540 GittcrfOrmigc Hornhautdystrophie, 211 GLYCOGENOSIS, TYPE Vlll, 429 Great vessel transportation, 388, 455, 962 Ghindula lacrimal ect6pica, 564 GLYCOGENOSIS, TYPE IX, 430 Grebe chondrodysplasia, 445 GLAUCOMA, CONGENITAL, 4I4 Glycolipid lipidosis, 373 Grebe disease, 445 Glaucoma, infantile, 414 Glycosuric rCnale, 861 GREBE SYNDROME, 445 Glioma nasal, 726 Glykogen-Synthetase-Mangel, 424 Gregg syndrome, 384 Glioma opticum, 763 Glykogenose, Typ I, 425 Greig syndrome, 504 Glioma orbitario, 763 Glykogenosc, Typ II, 11 Grocnblad-Strandberg syndrome, 832 Gliome de l'orbite, 763 Glykogenme, Typ III, 426 Grocnouw type I corneal dystrophy, 209 Gliomc nasal, 726 Glykogenosc, Typ IV, 116 Grocnomv type II corneal dystrophy, 212 Gliosis, 924 Glykogcnose, Typ V, 698 GROUP-SPI:CIFIC COMPONENT Globodontia with high frequency hearing Glykogcnose, Typ VI, 427 (MARK!:R), 446 loss, 784 Glykogenose, Typ VII, 428 Group-specit1c protein, 446 GLOBOID CELL LEUKODYSTROPHY, Glykogcnose, Typ VIII, 429 Growth, acclerated in childhood, 104, 391 4I5 Glykogeno~e,Typ IX, 430 GROWTH HORMONE DEFICIENCY, Glomangiomas, 416 Gm antigen type, 476 ISOLATED, 447 Glomus caroticum tumor, 127 GM1-gangliosidosi~of late onset without Growth retardation (see Section III, Table Glomus jugularc of middle ear, 145 bony deformities, 432 XX Ill) Glomus jugularc tumor, 145 GM1-GANGL!OSIDOSIS, TYPE I, 43I Grubenpapillen, 756 GLOMUS TUMORS, MULTIPLE, 4I6 GM1-GANGLIOSIDOSIS, TYPE 2, 432 Gruber syndrome, 634 Glomus tympanicum tumor, 145 GM2-GANG LIOSIDOSIS WITH HEXOS- Gruppenspezifische Eiweisskomponcnte, 446 Glositis mediana romboidea, 417 AMINIDASE A AND B DEFICIENCY, Guerin-Stern syndrome, 88 Glos~iteexfoliatrice marginCc, 954 433 GUnther disease, 821 GLOSSITIS, MEDIAN RHOMBOID, 4I7 GM2-GANGL!OSIDOSIS WITH HEXOS• GUSTATORY SWEATING, 448 Glossopalatine ankylosis, microglossia, AMINIDASE A DEFICIENCY, 434 Gyratacornealleukoma, acromegaloid hypodontia and limb anomalies, 451 Goiter, 249,257, 350,412,435,542,543, phenotype and cutis verticis, 18 Glossopalatine ankylosis syndrome, 451 809, 947 GYRATE ATROPHY, 449 Glottic atresia, 571 Goiter and sensorineural deafness, 249 G6PD deficiency, 420 Glottic cysts, 572 Goiter, familial, 542, 543,947 Glottic web, 574 GOITER, GOITROGEN-INDUCED, 435 Glucocerebrosidosis, 406 Goiter, nontoxic, 111 II Glucogeno~is,tipo I, 425 Goiter with high levels of serum thyroid Glucogenosis, tipo II, 11 hormones, deafness and stippled "H"-type tracheoesophageal fistula, 960 Glucogenosis, tipo III, 426 epiphyses, 257 Haemangiomatosis cutis et visceralis Glucogenosis, tipo IV, 116 Goitrogen-induced goiter, 435 cavernosa, 113 Glucogenosis, tipo V, 698 Goldcnhar syndrome, 735 Hair, axillary (also see Hair color, differ• Glucogenosis, tipo V1, 427 Goltz-Gorlin syndrome, 281 entiating characteristics, special body Glucogenosis, tipo VII, 428 Gonadal agenesis, 29 parts and Section III, Table XXVIII) Glucogenosis, tipo VIII, 429 GONADAL DYSGENESIS, XX TYPE, 436 decreased, 26, 49, 438 Glucogenosis, tipo IX, 430 GONADAL DYSGENESIS, XY TYPE, 437 early development of, 908 GLUCOGLYCINURIA (MARKER), 4I8 Gonadal inter~titialcell hyperplasia, 104 Hair, bone, nail and tooth dysplasia, 965 GLUCOSE-GALACTOSE MALABSORP- Gonadal tissue, presence of both ovarian Hair, color TION, 4I9 and testicular, 971 change of, 36 GLUCOSE-6-PHOSPHATE DEHYDRO- Gonadenaplasie, 29 blond or light-colored, 143, 337,720, GENASE DEFICIENCY, 420 GONADOTROPIN DEFICIENCY, ISO- 808,875 Glucosuria renal (Marcador), 861 LATED, 438 darkening of, 35 Glukoglyzinurie, 418 Gonflement fibreux des maxillaires, 539 frosted-grey sheen of, 143 Glukose-Galaktose-Malabsorption, 419 GONIODYSGENESIS, 439 hyperpigmented, black, 410,412 Glukose-6-phosphat Dehydrogenase-Mangel, Gonosomal intersexuality, 173 pigment reduced, 413 420 Gonosomale Intersexualit<'it, 17 3 prematurely grey, 163,493,997,998 GLUTARIC ACIDURIA, 42I GORL!N-CHAUDHRY-MOSS SYN- white, 30, 34, 35, 36, 657 Glutathionase deficiency, 422 DROME,440 white developing yellow cast with sun Glutathione synthetase deficiency, 849 Gorlin-Psaume syndrome, 770 exposure, 34 Glutathionmangel, 422 Gorlin syndrome, 101 white forelock, 31,997 GLUTATHIONURIA, 422 Gota, 441 white scalp hair with pigmented patches, GLUTEN-INDUCED ENTEROPATHY, 423 GOUT, 44I 30 Glycinosis, 826 Goutte, 441 Hair, differentiating characteristics Glycogen deficiency syndrome with visceral Cowers form of dystrophy, 690 coarse, 412 fatty metamorphosis, 424 Grand mal epilepsy, 135 dry, 737,946 Glycogen storage disease, type I, 425 Granular cell neurofibroma, 360 fragile, 334, 643 Glycogen storage disease, type II, 11 Granular cell perineural fibroblastoma, 360 kinky, 720, 965 1152 Index Hair, differentiating characteristics- long, 137,189,190,587 onset before 1 yr of age, 64, 79, 186, Continued marked shortness of, 8, 823 217, 298,347,348,466,581,666, lanugo or downy, 105,670,720 radial deviation of, 231,647,941 767,838,842,969,972,979, 989 short, 670 radial ray deficiency of, 336 right heart, 204, 332, 354, 838 slow growth of, 102, 302 short, 1, 16, 20, 171, 242, 250, 302, severe, 979 thin, 334,413, 511 358, 389, 445 unspecified heart failure, 51, 332,541 Hair, ear tremor of, 472, 963 long coarse hairs on helix, 319 trident-like, 10 HEART-HAND SYNDROME, 455 tongue-shaped preauricular tuft of ulnar deviation of, 160, 270, 749, 980 Heart, hemosiderosis of, 95 hair, 627 HAND MUSCLE WASTING AND SENSORI- Heart murmur Hair, excessive and gingival enlargement, NEURAL DEAFNESS, 450 abrupt onset of, 53 410 Hand writing, deterioration of, 266 at apex, 298,347,348,353,669,917, Hair, eyebrov.. · HANHART SYNDROME, 451 989 cleft of, 735 Hapsburg jaw, 626 at 4th left intercostal space at sternal confluent, 242, 388, 616,632 HAPTOGLOBIN (MARKER), 452 border, 218,347,581, 969 depigmentcd medial portion of, 31 Harelip, 178 at 3rd left intercostal space at sternal hypoplastic, 67, 102, 105, 653 Harrington syndrome, 943 border, 80, 298, 731, 836, 972, 989 hypoplastic lateral third of, 299 HARTNUP DISORDER, 453 at 2nd left intercostal space at sternal long, thick and bushy throughout, 119, Hartnupsche Krankheit, 453 border, 78, 96,297,347,731,800, 242, 644 Head, backward tilting of, 75, 413, 752, 753 835, 836, 838, 839, 842, 916, 989 long, thick and bushy medial portion of, Head held in extensor position, 406 at left sternal border, 53, 79, 82, 83, 96, 966, 997 Head, increased transillumination, 480,481 286, 347,836,838,842,938, 989 loss of, in early childhood, 825 Head tilt, 188 at 3rd right intercostal space at sternal markedly elevated arch of, 119 Hearing loss (see also Ear and Section III, border, 80 Hair greying, premolar aplasia and hyper- Table XXV) at 2nd right intercostal space at sternal hidrosis, 493 bilateral, 183,206, 244,249,252,260, border, 78, 82, 916 Hairy cyst on head or neck, 283 265, 550 blowing quality of, 82, 204, 347 Hairy pinnae, 319 conductive, due to middle ear malforma• bruit, 186 Half nose plus proboscis, 722 tion (also see Section III, Table bruit over spine, 186 Hallermann-Streiff syndrome, 7 38 XXV), 330,331,377,664 continuous, 53, 218, 800 Hallux (also see Digit, Toe and Joints) fluctuating, 248 crescendo-decrescendo configuration absence of (see Ectrodactyly), 875 inability to recognize pitch, 273 to, 800 angulation deformity of, 119 marked (71 +db), 89, 97, 123,142, decrescendo configuration to, 83, 989 bifurcation of distal phalanx of, 119, 150, 243, 247, 249, 252, 253, 257, diastolic, 82, 83, 96, 298, 347, 669, 836, 264, 621 261,265, 268,269,272,275, 315, 838, 842, 916, 972, 989 broad, 325,578,621, 754 562, 592, 784 early timing of diastolic, 838 broad distal phalanx of, 114, 119 mild (27 -40 db), 254, 258, 550 early timing of systolic, 35 3 bulbous distal phalanx of, 264 mixed, 247,263,264,530 ejection configuration to (diamond- duplication of, 13,621,817 moderate (41 -70 db), 89,245,246, shaped), 78, 80, 83, 96, 108, 109, duplication of proximal phalanx of, 119 247,254,258,261,272,550,784 347,454,581,665,731, 835,838, polysyndactyly of, 771 nonprogressive, 245, 249, 251, 260, 839,916,917,989 short, 160,190,700,875 267,269,785 flow quality of (rumble), 96, 298, 347, short distal phalanx of, 114, 264, 817 paralleled onset of loss of libido, 982 669 syndactyly with 2nd toe, 22 present at birth, 70, 142, 243, 244, 245, harsh quality of, 78, 80, 82, 286, 297, turned outward, 19, 229 249, 251' 252, 256, 257' 259, 269, 298, 347, 839, 916, 989 turned upward, 160 315, 377' 450,983 high-pitched quality of, 347, 835 Hiimangiom der orbita, 764 sensorineural (see Section Ill, Table late timing of diastolic, 669 Hiimangiomatose der Leber, 466 XXV) late timing of systolic, 668 Hamartoma del hfgado, 604 slow progression of, 246,267,708 low-pitched quality of, 669 Hamartoma of CNS, 188 unilateral, 89,248,274,457,592 mid timing of diastolic, 96, 669 Hamartoma of liver, 604 Hearing loss and nephritis, 708 mid timing of systolic, 73, 917 Hamartoma, venous, 113 Hearing loss, familial low-frequency, 256 murmur intensity grade II (soft), Hamartome hepatique, 604 Hearing loss, hereditary progressive high- 109, 204, 837 Hammer toe, 89, 140, 393 tone type, 269 murmur intensity grade III (moderately Hiimochromatose, 460 Hearing loss, low-frequency, 260 loud), 109 Hiimophilic A, 461 Heart (also sec Section III, Table XXXII) murmur intensity grade IV (loud), 78, 80, Hiimophilic B, 462 HEART BLOCK, CONGENITAL 82,347,581' 916,938,969,972 Hand Fehlbildung und InnenohrschwerhOrig• COMPLETE, 454 murmur intensity grade V (loud), 347 keit, 450 Heart disease, glycogen, 11 pansystolic configuration to (holosystolic), Hand, as a unit Heart failure 347, 581,666, 917, 969, 989 broad, 1, 20, 171,250,389,510,893, acute onset, 217,922 posteriorly, 73 940 acyanotic, 82,298,348,767,922 regurgitant, 666,668, 916, 917 central ray deficiency of, 281, 336, 337 by xray or percussion, 51, 76, 80, 104, soft quality of, 842, 1002 claw-like, 281,672, 1000 218,286,297,298, 347,348, 353, systolic, 64, 73, 78, 79, 80, 82, 83, 96, clubbed, 380, 574, 749 398,581,672,800,805,922,968, 108, 109, 204,286,297,298, 332, clubhand with deviation to ulnar side, 969, 972, 989 347, 348, 353, 454, 541' 581' 665, 223 congestive, 11, 39, 53, 64, 76, 79, 80, 666,668, 731, 768,835, 836, 837, contracture of web space of, 301 82,116,204,217,286,297,298, 838, 839, 842, 916, 917' 938, 969, decreased range of motion of, 557 347,348, 353,384,420,460,581, 972,989 defect of, 282,727,1001 665,666,689,695,698,767,825, transmission to carotid (carotid bruit), defect of metacarpophalangeal joint, 129 836, 838, 842, 922, 939, 969, 972, 78, 80,916 duplication of ulnar ray structure of, 981 979, 989 transmission to lung fields, 838 hyperextensible metacarpophalangeal cyanotic, 92, 297,541,968 transmission to jugular notch (supra• joints, 409 left heart, 353 sternal notch), 78, 80, 916 inability to make a fist, 557 moderate, 79, 968 unspecified heart murmur, 53,587, inability to make a tight fist, 156 onset after 1 yr of age, 353 674, 805 Index 1153 Heart position hypoplastic, 85, 98, 159, 161, 314, 330, Hepatic hamartoma, 604 complete displacement of, from thorax, 331,664 HEPATIC HEMANGIOMATOSIS, 466 335 large scapha of, 619 Hepatic infantile hemangioendothelioma, dextrocardia, 92, 182,285,468,606,629, poorly developed scapha of, 326 466 888 Hemangiectatic hypertrophy, 55 HEPATIC LOBES, ACCESSORY, 467 midline.position of, 401 HEMANGIOMA AND THROMBOCYTO- Hepatic lobes anomalous, 467 partial displacement of, from thorax, 335 PENIA SYNDROME, 456 Hepatic situs inversus, 606 unspecified malposition of, 805 Hemangioma de la 6rbita, 764 HEPATIC VENOUS ANOMALIES, 468 Heart, septal defect Hemangioma of lids and orbit, 764 HEPATOLENTICULAR DEGENERATION, atrial, 139, 156, 157, 161, 182,381, Hemangioma, subglottic, 918 469 384,388,455,632,720,941,999 Hemangiomata and enchondromatosis, 346 Hepatomegaly (see Section III, Table XXXIII) ventricular, 53,138,157,161,162,182, Hemangiomatose Mpatique, 466 Hepatosplenomegaly (also see Section III, 379, 384, 388,455,632, 754, 999 Hemangiomatosis generalized cavernous, 113 Table XXXlll), 143, 503, 677, 679 Heart thrill Hemangiomatosis hep Hereditary vitamin D-dependent rickets, prenatal onset of contracture of, 629 Hipoplasia y pigmentaciOn del esmalte y Ia 873 prenatal onset of dislocation of, 97, 158 dentina por eritroblastosis fetal, 340 Hereditary vitelliruptive macular degenera• 570 Hipospadia pseudovaginal perineoescrotal, tion, 622 Hiper-beta-alaninemia, 486 831 Heredodegeneration of inner ear, 315 Hiper-diab3sico-aminoaciduria, 491 Hipospadias, 5 I 8 Hercdofamili Hyperb€talipoprot€in€mie avec hyperchylo• Hyperplasie cong6nitale des surr6nales par Hypodontia of maxillary lateral incisor teeth, micron6mie, 501 deficit en 1 7a-hydroxylase, 903 934 HYPERBILIRUBINEMIA I (MARKER), Hyperplasie cong6ntale des sum!nales par Hypodontie avec dysg6n6sie des angles, 511 487 deficit en 20-22 desmolase, 907 Hypodontie und Nageldysgenesie, 511 Hyperbilirubinemia unconjugated, 487 Hyperplasie cong6nitale des surr6nales par Hypogammaglobulinemia, 521 Hypercalcemia, peculiar facies, supravalvular d€ficit en 21-hydroxylase, 908 Hypogammaglobulinemia and retinal tel- aortic stenosis syndrome, 999 Hyperplasie diaphysaire avec dysostose angiectasia, 868 HYPERCHOLESTEREMIA, 488 cranio-faciale, 226 Hypogammaglobulinemia thymoma syn• Hypercholesteremic xanthomatosis, 488 Hyperplasie persistante du corps vitr6, 994 drome, 944 HYPERCHYWMICRONEMIA, 489 Hyperplastic form of chondrodystrophy, Hypogenital dystrophy with diabetic HYPERCYSTINURIA (MARKER), 490 656 tendency, 823 HYPERDIBASIC-AMINOACIDURIA, 491 Hyperpnea, compensatory, 678 Hypoglossia-hypodactylia syndrome, 451 Hyperextension of entire body, 340, 603 HYPERPREBETA-LIPOPROTEINEMIA, HYPOGLYCEMIA, FAMILIAL NEO• Hypcrglycinemia, ketotic, 826 500 NATAL, 512 HYPERGLYCINEMIA, NONKETOTIC, 492 HYPERPREBETA-LIPOPROTEINEMIA HYPOGLYCEMIA, LEUCINE-INDUCED, Hypcrglycinemia with hypooxaluria, 492 AND HYPERCHYLOMICRONEMIA, 5I3 Hyperglycin6mie, 826 501 Hypoglyc6mie induit par la leucine, 513 HypcrglycinCmie san c€tose, 492 HYPERPROLINEMIA (MARKER), 502 Hypoglyc€mie n6o-natale, 512 Hypcrglycinuria of DeVries ct al, 520 Hyperprolinemia type I, 502 Hypohidrosis, hypodontia, hypotrichosis HYPERHIDROSIS, PREMATURE HAIR Hypcrprolinemia type II, 502 syndrome, 333 GREYING AND PREMOLAR HYPERSARCOSINEMIA, 503 Hypohidrosis, onycholysis and enamel APLASIA, 493 Hypertaurodontism, 926 hypocalcification, 45 Hyperkalemic periodic paralysis, 794 HYPER TELORISM, 504 Hypo hidrotic ectodermal dysplasia, 333 Hyperkaliiimischc Parcsen, 794 Hypertelorism (see Section III, Table Hypokalemic periodic paralysis, 795 Hyperkeratose palmoplantaire et p6riodonto- XXIV) Hypokali Hypothalamic dysfunction, 820, 822 Inactivation de l'isoniazide, 7 Infrahepatic interruption of inferior vena Hypothyroidism, congenital, 542,543, Inanition, (also see Weight loss, Failure to cava, 528 947,948 thrive and Malnutrition), 403,535, Inguinal area, mass in, 529 Hypotonia and craniofacial dysmorphia, 139 566,588, 1003 INGUINAL HERNIA, 529 Hypotonia and weakness, 134 Incapacidad auditiva para Ia afinaci6n, 273 Inherited copper toxicosis, 469 Hypotonia, hypomentia, hypogonadism Incarcerated hernia, 529 Inkomplete testikutare Peminisierung, 50 and obesity, 823 Incisor teeth Innenohr-SchwerhOrigkeit, Polyneuropathie Hypotrophie de !'email, taurodontie, duplicated maxillary lateral incisor, 229 und Opticusatrophie, 268 cheveux crepus, et sclerose de la peg-shaped mandibular incisor, 17 InnenohrschwerhOrigkeit, Dtinnadarm• corticate osseuse, 965 peg-shaped maxillary lateral incisor, 177, Divertikulose und Neuropathie, 265 Hypoxanthine guanine phosphoribosyl 229,934 InnenohrschwerhOrigkeit, Myopie und Oligo- transferase deficiency, 588 Incisura mentalis Types I, II, III, & IV, 146 phrenie, 251 InclusiOn o ausenda congenita de los in- hmer ear, aplasia, 562 cisivos laterales, 934 Inner ear dysplasia, 315 h1sensibilite 3. la thyreostimuline (TSH), Incompetence of pulmonary valve, 838 948 Incomplete feminizing testes syndrome, 50 1-cell disease, 672 Insensibilite surrenalienne congenitale Incomplete male pseudohermaphroditism a Ichthyosis and cataract, 131 l'ACTH, 25 type 1 (Wilson and Goldstein), 50 Ichthyosis, epilepsy and oligophrenia, 741 Insertion basse des oreilles, 327 Incomplete male pseudohermaphroditism, Idiopathic familial hyperlipemia, 489 Insuffisance de Ia valvule pulmonairc, 838 type 2 (Wilson and Goldstein), 831 Idiopathic hyperglycinemia, 492 666 Incomplete oculocutaneous albinism, 143 Insuffisance mitrale, Idiopathic hypertrophic osteoarthropathy, 969 Incomplete pyloric diaphragm, 910 Insuffisance tricuspidienne, de Ia valvula pulmonar, 838 788 Incomplete testicular feminization syndrome, h1suficiencia Idiopathic hypertrophic subaortic stenosis, h1suficiencia mitral, 666 50 917 tricusp{dea, 969 Incomplete tricuspid aortic valve, 80 Insuficiencia Idiopathic infantile hypercalcemia syndrome, (late-onset) cystinosis, 238 INCONTINENTIA PIGMENTI, 526 Intermediate 999 Incontinentia pigmenti acluomians, 526 Intermittent branched-chain ketonuria, 628 Idiopathic juvenile osteoporosis, 782 Increased corticosteroid-binding globulin, Internal ankyloblepharon, 60 Idiopathic lymphedema, 615 ARTERY 222 INTERNAL CAROTID Idiopathic recurrent myoglobinuria, 125 ANEURYSM OF MIDDLE EAR,530 "Idiopathic thrombocytopenic purpura" Incus Internal chondromatosis, 345 with lipid histiocytosis of spleen, 942 connective tissue fibers at distal end of, Interrupci6n del arco aOrtico, 76 IgA-Mangel, 525 324 Interruption de Ia crosse aortique, 76 Ileal atresia or stenosis, 531 defect of, 28,247,324,331,627,664, Intersexualidad gonos6mica, 173 Ileal B12 transport deficiency, 992 771,773,786,860 Intersexualite par aberration des gonosomes, !leal duplication, 532 fails to articulate with stapes, 244, 324, 173 Iteo meconial aislado, 545 331,664 INTESTINAL ATRESIA OR STENOSIS, Ileum fused to bony atretic plate, 664 531 atresia of, 727 long crus shaped like a hook, 244 Intestinal bleeding, 113,139,194,368, duplication of terminal, 194 Indentations of upper lip, 178 460, 469,532,535,536, 633, 832, Ileus meconial, 545 INDEPENDENT ORIGIN OF IPSILATERAL 912,914 Iliac horns, 704 VERTEBRAL ARTERY, 527 INTESTINAL DUPLICATION, 532 IMIDAZOLE AMINOACIDURIA Index finger (see Digit, Finger, Phalanx, INTESTINAL ENTEROKINASE DE- (MARKER), 519 and Joint) FICIENCY, 533 lmidazolurie, 519 Infantile INTESTINAL LYMPHANGIECTASIA, 534 JMINOGLYCINURIA (MARKER), 520 pyloric stenosis, 162,388, 754 Intestinal malrotation, 537 Iminoglyzinurie, 520 spasms, 126, 135, 713 Intestinal monosaccharide intolerance, IMMUNODEFICIENCY, COMMON VARI- Infantile cerebellar atrophy with retinal 419 ABLE, 52! degeneration, 745 Intestinal obstruction (also see Obstipation), IMMUNODEFICIENCY, SEVERE COM• Infantile hypoglycemosis, familial, 512 62, 69,149,162,192,194,237, BJNED,522 Infantile kortikale Hyperostose, 221 289,300,386, 388,401,529,531, IMMUNODEFICIENCY WITH WISKOTT• Infantile recessive optic atrophy, 755 536,545,603,633,645, 727, 748, ALDRICH SYNDROME, 523 Infantile renal tubular acidosis and con- 754,888,912,914 deafness, 863 IMMUNODEFICIENCY, X-LINKED genital sensorineural in neonatal period, 62,192,531 SEVERE COMBINED, 524 Infecci6n par citomegalovirus, 381 Immunodeficiency, X-linked severe dual Infection of biologic mother during pa• INTESTINAL POLYPOSIS I & II, 535 system, 524 tient's prenatal life (see Section III, INTESTINAL POLYPOSIS III, 536 IMMUNOGLOBULIN A DEFICIENCY, Table XXll) INTESTINAL ROTATION, INCOMPLETE, 525 Infections, 22, 27, 75, 94, 112, 139,140, 537 Immunologic deficiency and thymoma 143, 154,200,206,285,347,398, Intestinal tract, air in, 365 syndrome, 944 403,406,425,426,431,442,443 Intestinal volvulus, 121,193,531,532,537, Impacted teeth, 932 521,522,523,524,598,644,655, 645, 888 Impaktierte Vihne, 932 658,672,714,717,729,730,772, Intestinale Duplikation, 532 Imperforate anus, 69 812,826,851,885,886,912,943, Intestinale Lymphangiektasie, 534 Imperforate anus/polydactyly, 987 944, 974 Intestinalcr Enterokinasemangel, 533 Imperforate hymen, 483 Inferior epiblepharon, 355 Intestine Imperforation de l'anus, triphalangie du INFERIOR VENA CAVA, ABSENT HE• abnormal fixation of, 104, 748 pouce, decollement du pavilion de PATIC SEGMENT, 528 ascending colon within mesentery of l'oreille et surdite de perception, 72 Infracristal ventricular septal defect with ileum, 121 Imperforation de l'hyrnen, 483 overriding aorta and infundibular carcinoma in duplicated segment of in- ImpresiOn basilar prirnaria, 103 pulmonary atresia or stenosis, 938 testine, 532 Impression basilaire primitive, 103 Infracristal ventricular septal defect with cecum, free floating, 121 Inability to utilize long-chain fatty acids as overriding aorta without infundi• colon, duplication of, 194 a source of energy in muscle, 125 bular stenosis (Eisenmenger com• diverticulum of small, 160, 265, 401, Inactivaci6n de Ia isonhicida (Marrndor), 7 plex), 989 412,513 Index 1157 duodenal stenosis or atresia, 300, 386, Ipsilateral vertebral artery directly from Jansky-Bielschowsky syndrome, 713 401,603 aortic arch rather than from subclav• Jarcho-Levin syndrome, 900 duodenal ulcer, 62, 963 ian artery, 527 Jaundice, 48, 110, 121, 139,143, 148, duplication of small, 531 Iridocorneal mesodermal dysgenesis, 439 149, 300, 340, 395,403, 460, 469, duplication of colon, 194 Iridogoniodysgencsis, 439 487' 603, 717' 821' 849, 878, 886, ileum, atresia of, 727 IRIS COLOBOMA AND ANAL ATRESIA 939, 946, 961, 978, 990 ileum, duplication of terminal, 194 SYNDROME, 544 hyperbilirubinemia, physiologic, 946 lymphangiectasia, small intestinal, 55 Iron-binding )3-globulin deficiency, 95 persistent, physiologic, 961 malabsorption, small intestinal, 653 Iron retention, 460 persisting beyond 6 wks of age, 403 malrotation of, 28,104, 160, 168, 300, Irritability, 15, 86,406,423,485,492, recurrent, 149 405,531' 537,606,748, 888 598, 808, 820,850,886, 974, 978, Jaundice chronic benign, 487 meconium ileus, 237 991 Jaundice without bilirubin glucuronide in meconium, inspissated, 545 with onset at 4-6 mos, 221, 415 bile, 961 perforation of, 7, 338, 529,531, 633 Islet cells, hypofunction of, 702 Jaw excursion, limitation of, 882 polyps, multiple, in colon or rectum, Iris stroma JAW-WINKING SYNDROME, 548 412,535 hyperplastic, 845 Jejunal atresia or stenosis, 531 polyps, multiple, in small intestine, 535, hypoplastic, 732 Jejunal duplication, 532 536 Iris (also see Section III, Table XXIV) Jervell and Lange-Nielsen syndrome, unspecified defect of, 14, 69 adhesions to posterior embryotoxon of, 123 Intolerance au lactose, 569 439 Jodthyrosin-Dcjodinasc-Mangel, 543 Intolcrancia a Ia lactosa, 569 aniridia, 57, 281, 284 Joint (also see specific named joints) anterior Intraadenoidal cysts, 706 adhesions of, 451,845 arthritic changes, 308 Intraarticular osteochondroma of the astra• atrophy of, 479,637, 735 arthritis, gouty, 441,508,859 galus, 311 blood vessels prominent, 732, 872, 994 arthrogryposis, 375,895 Intracranial hemorrhage, 121,186,187,777, Brushfield spots, 121,139, 171 atrophic, 924 825, 832, 859 cleft of, 162, 164, 168, 169, 242, 544, contractures of, 85, 88, 157, 375, 470, INTRAEPITHELIAL DYSKERATOSIS, 585,636,732,733,735,824 560, 598, 644, 895 538 dark blue, in adulthood, 36 decreased range of motion, 37, 153, deep Intrahepatic biliary atresia, 110 blue, bilaterally, 657, 808 154, 155, 157, 189, 306, 358, 394, deep blue, in infancy, Intrahepatic cystic dilatation of bile ducts, 35 398, 470,474, 517, 557, 641, 652, 149 deep blue, in opaque light, 34 672, 673, 677, 680, 700, 754, 774, forward curling Intraoral bands with cleft uvula, 181 eversion of pigment 798, 825, 893, 1000 layer, 721 INTRAOSSEOUS FIBROUS SWELLING dislocation of, 678 heterochromia OF JAWS, 539 of, 30, 31,475,716, dislocation, prenatal onset of, 570 Intraspinal hemorrhage, 186 732, 997 dislocation, recurrent, 338 Intraspinal lipomas, 602 hypoplasia of, 439, 638, 721 fixed, 37 patterning abnormal, 205, 999 Intrauterine and neonatal enamel hypo• fixed in extension of, 88, l 001 posterior adhesions of, 451, 721, plasia, 342 fixed in flexion, 88, 160, 1001 845,872 Intrauterine growth retardation (also see fusiform swelling of, 644 stroma, hyperplastic, 845 Birthweight, low for gestational age increased range of motion (hyperexten• stroma, and ethnic group), 112,139,152 hypoplastic, 732 sion of), l, 121, 338,352,678,728, translucent, 32, 34, 35, 36 158, 382, 769,881,887,891,977 754,774,777, 783,828,967 tremulousness of, 630, 638 Intrauterine healed clefts, 178 large, 557, 825 unilateral cleft of, 457 Intrauteriner Aminopterin Schaden, 380 loose body within, 774 Isolated congenital hypotrichosis, 623 Inv antigen type, 476 marked decrease in range of motion of, Isolated congenitally enlarged tongue, 618 598 Invagination dentaire, 276 Isolated PSH deficiency, 438 Inversion der Ventrikel mit Transposition progressive contracture of, 598, 644 Isolated hemihypertrophy, 458 progressive decrease in range of motion der grossen Gefii:sse, 540 Isolated IgA deficiency, 525 Inversion der Vcntrikel of, 673 ohne Transposition Isolated infundibular pulmonary stenosis, der grossen Gefiisse, 541 stiff, 644,679, 825, 1000 731 Inversion des ventricules avec transposition stiff, with onset in childhood, 675 Isolated LH deficiency, 438 des gros vaisseaux, 540 stiffness, progressive, 641 ISOLATED MECONIUM ILEUS, 545 Inversion des ventricules sans transposition Joint, interphalangeal Isolated trypsinogen deficiency, 973 des gros vaisseaux, 541 decreased range of motion at interpha• Isolated TSH deficiency, 949 Inversion du disque optique, 757 langeal joints of fingers, 557,650, Isolated ventricular inversion, 541 INVERSION OF VENTRICLES WITH 980 ISOLATION OF SUBCLAVIAN ARTERY TRANSPOSITION OF GREAT decreased range of motion at proximal FROM ARTERIES, 540 AORTA, 546 interphalangeal joint of finger, 85 Isolation of subclavian artery Inversion of ventricles without reversal of types I, II, and decreased range of motion of finger, arterial trunks, 541 III, 546 647,749 Isolierter ACTH-Mangel, 26 INVERSION OF VENTRICLES WITHOUT defect of distal interphalangeal joint of Isolierter Gonadotropin-Mangel, 438 TRANSPOSITION OF GREAT finger, 373 ARTERIES, 541 Isolierter Thyrotro.Jin-Mangel, 949 defect of interphalangeal joint of finger, InversiOn ventricular con transposiciOn de los Isolierter Wachtumshormon-Mangel, 44 7 129, 'i66 grandes vasos, 540 Isomaltase insufficiency, 920 extension contracture of finger, 89, 450 InversiOn ventricular sin transposiciOn de los Isoniazid inactivation, 7 fixed fused finger, 114 grandes vasos, 541 Isoniazid-Inaktivierung, 7 flexion contracture at metacarpopha• Inverted transposition, 540 Isovalcriazidamie, 547 langeal joint, 301 ISOV ALERICACIDEMIA, 54 7 flexion contracture at proximal interpha• Iodide goiter, 435 Ivory exostoses of ear canal, 318 langeal joint of finger, 301 IODIDE TRANSPORT DEFECT, 542 flexion contracture of finger, 88, 89,121, Iodide trapping defect, 542 140, 160, 223,393,450,470,641, Iodotyrosine dehalogenase deficiency, 543 882, 1000 IODOTYROSINE DEIODINASE DEFIC- flexion contracture of finger, present at IENCY, 543 Jaffe-Lichtenstein disease, 390 birth, 450 1158 Index Joint (see also specific named joints)- Keratosis palmoplantaris und Periodonto- Knee Contirwed klasie, 494 decreased range of motion of, 85, fJcxion of distal interphalangeal joint, 1 Keratosis rubra figurata, 361 129, 311,560,774 hypcrcxtensible fingers, 105, 250 Keratosulfaturia, 678 dislocation of, 704 increased range of motion at interpha- Ketosis-prone diabetes mellitus, 549 dislocation of knee on weight bearing, langeal joint of finger, 190 Ketotische J!orm der 1-Iyperglyzin.lmie, 826 293 lateral deviation of finger at proximal KGB SYNDROME, 554 flexion contracture of, 1000 interphalangeal joint, 89 genu recurvatum, 651 marked increase of range of motion at Kidney genu valgum, 106, 156, 185, 216, 290, proximal interphalangeal joint of abnormal rotation or position of, 506, 682, 352,474,630,647,654,672,675, finger, I 977 679,749,798,828,847,897 stiff proximal, 1001 aplasia of, 337,603,634, 682, 857, genu varum, 250, 704, 798, 828, 897 trigger position of index, 160 860 increased range of motion of, 90, 774 Joint, phalangeal cyst in, 578, 883,884 knee fixed in position, 88 decreased range of motion of, 157,674, dilation of urinary collecting system, large, 90 675 629 loose body \vi thin knee joint, 774 increased range of motion of, 653 duplicated renal pelvis, 264, 401 prenatal onset of contracture of, 629 duplication of, 162 Junctional tachycardia, 922 prenatal onset of dislocation of, 570 duplication of urinary collecting sys- Kniepterygium-Syndrom, 818 Juvenile acanthosis nigricans, 5 tem, 720 Juvenile cirrhosis, 39 KNIEST DYSPLASIA, 557 glomerulonephritis, 255, 578, 708 Kniest-Syndrom, 557 JUVENILE DIABETES MELLITUS, 549 horseshoe, 159, 160,544,977 JUVENILE DIABETES MELLITUS, OPTIC KnOchelpolster, lcukonychie und Taubheit, hydronephrosis, 97, 157,162, 337,578, 558 ATROPHY AND DEAFNESS, 550 720, 727 Juvenile epithelial corneal dystrophy, 210 Knock-knee, 106, 156, ISS, 216,290, 352, hypoplasia of, 571,720,977 474,630,647,654,672,675,679, Juvenile epithelial degeneration of cornea, immature, 121 749, 798, 828, 84 7' 897 210 in pelvis, 682 KNUCKLE PADS, LEUKONYCHIA AND Juvenile hemochromatosis, 460 large, 104, 458, 859 DEAFNESS, 558 Juvenile hyaline fibromatosis, 411 mixed kidney lesions, 160, 168, 544 Juvenile or infantile coronary sclerosis, 217 Kohlcnhydrat-induzierte Hyperlip.lmie, 500 multiple cysts throughout, 138, 168,605, Kohlschlitter syndrome, 44 Juvenile osteoporosis, 782 634,662 Juvenile Paget disease, 776 KOILONYCHIA, 599 nephritis, 385 Kolon-Duplikation, 194 Juvenile paradentose, 806 nephropathy, 383,704 Juvenile periodontosis, 806 Kolonatresie oder-stenose, 193 nephrosis, 128, 264, 385 Kombinierte Hyperlipoprotein3mie, 496 Juvenile pernicious anemia, 992 partial agenesis of, 977 Juvenile retinoschisis, X-linked, 871 Komplette Farbenblindheit, 198 pelvic, 682 Komplette Lungenvenen-Transposition, 842 Juveniler Diabetes mellitus, 549 pyelonephritis, 255,578 Juveniler Diabetes mellitus, Optikus- Kongenitale Pachyonychie, 789 renal calculi, 37,258,441 Konisch deformierte oder Aplasic der laterale1 atrophie und Taubheit, 550 renal colic, 239, 859 Juxtavagal tumor, 127 oberen Schncidez.lhne, 934 renal dysfunction, progressive, 239, Kontrakturelle Arachnodaktylie, 85 441,736 Koronarc Dentin-Dysplasie, 277 renal defect, unspecified, 140, 157, 163, K Krabbe disease, 415 173, 229, 386, 388, 886, 908, 960, Kranio-okulo-dentales Syndrom, 229 KahlkOpfigkeit, 99 981, 984, 987 Kraniodiaphysiire Dysplasic, 224 Kalzinose der Koronararterien, 217 renal excretion, decreased, 710 Kraniofaziale Dyssynostose, 227 Kammerdivertikel, 988 renal failure, chronic, 258 Kraniokarpotarsale Dysplasie, 223 Kampomeles Syndrom, 122 renal function decrease with adult on• Kraniometaphysare Dysplasie, 228 Kaposi dermatoses, 1005 set, 373, 508, 859 Kraniosynostose, 230 Kardioauricul3res Syndrom, 123 renal function decrease with onset in Kristalline Form der Hornhautdystrophie Kardiomeler Syndrom, 455 2nd or 3rd decade, 708 (Schnyder), 216 Karnosina:mie, 1 26 renal function, progressive loss of, 708 Kryptotie, 232 Karpo-tarsale Osteolyse, 128 renal hypertension, 474,977 Kufs disease, 713 Kartagener syndrome, 285 renal insufficiency, 91,116,128,239, Kugelberg-Welander disease, 895 Kasabach-Merritt Syndrom, 456 578,580,862, 864, 999 KUSKOKWIM SYNDROME, 560 Katarakt-lchthyosis-Syndrom, 131 renal mass, 975 Kyphoscoliosis (also see Scoliosis, and Katzenaugen-Syndrom, 544 renal tubular acidosis, 395, 736, 863, Section III, Table XXIX) Katzenschreisyndrom, 163 864 progressive, 656 Kearns-Sayre-Shy-Daroff syndrome, 752 renal tubular necrosis, acute, 125, 698 Kyphosis (also see Section III, Table XXIX) Kehlkopfatresie, 571 unilateral hypoplasia of, 860 lumbar, 398,679 Kehlkopfmembran, 574 urinary cystine stones, 239 marked, 189,672 Kehlkopfzysten, 572 unspecified structural defect of, 170, thoracic, I 03, 189 KELOID, 551 300, 329,364, 977 thoracolumbar, 674 Kenny-Caffey disease, 976 uremia, 238,441,578 KYRLE DISEASE, 56 I Keratoakanthom Typ Ferguson-Smith, 359 Kyste bronchog6nique, 117 KCratocone, 552 Kidney, adult polycystic disease of, 859 Kyste du ch6l6doque, 149 KERATOCONUS, 552 Kidney, congenital solitary, 857 Kyste h6patique solitaire, 465 Keratoma hereditarium mutilans, 259 Kidneys, absence of, 856 Kyste neuro-ent6ritique, 894 Keratomegalia, 637 Kinky hair disease, 643 Kystes dermofdes de la tete ct du cou, 283 Keratopachydermia, digital constrictions Kinngrlibchen, 146 Kystes dermofdes orbitaires et p6riorbitaires, and deafness, 259 KLEEBLA IT SCHADEL ANOMALY, 761 KCratopathie en bande, 553 555 Kystes larynges, 572 KERATOPATIIY, BAND-SHAPED, 553 Klcin-Waardenburg syndrome, 997 Kystes m6sent6riques, 645 KCratose palmaire-leuconychie-surditC, 558 KLINEFELTER SYNDROME, 556 Kystes nasopharyngiens, 706 Keratosis follicularis serpiginosa, 339 Klippcl-Tr6naunay-Syndrom, 55 Kystes splCniques, 240 Index 1159 L Laron dwarfism, 302 LEFT VENTRICLE, SINGLE PAPILLARY Laron Zwergwuchs, 302 MUSCLE, 582 L'association phocomelie-ectrodactylie, LARSEN SYNDROME, 570 Left ventricular endocardial fibrosis fibro• malformations des·m:eilles avec Laryngeal aerocele, 575 elastosis, 348 surdite, arythmie sitmsale, 592 LARYNGEAL ATRESIA, 571 Left ventricular endocardial sclerosis, 348 Labia (majora or minora) LARYNGEAL CYSTS, 572 Left ventricular primary myocardial hyper• completely fused, 908, 909, 971 Laryngeal hernia, 575 trophy with endocardial fibroelastosis, containing testis, 49, 50 Laryngeal mucocele, 575 348 hypoplasia of, 29, 160, 440 Laryngeal pouch, 575 Left ventricular subendocardial fibroelastosis, labia minora hypoplasia of, 823, 876 Laryngeal pyocele, 575 348 labia minora prominent, 587 Laryngeal stridor, congenital, 576 Leigh disease, 344 partially fused, 903, 908, 909, 971 Laryngeal tumors, 352,572,573, 575, Leiner disease, 812 resembling cleft scrotum, 50, 908 918 Lelncrsche Krankheit, 812 Labile diabetes mellitus, 549 LARYNGEAL VENTRICLE PROLAPSE, Leiomioma cut:ineo mUltiple, 890 Labia doble, 594 573 Leiomyoma, multiple of skin, 890 Labia lcporino con o sin paladar hendido, LARYNGEAL WEB, 574 Leiomyomatosis cutis, 890 178 Uiomyome multiple de Ia peau, 890 LABYRINTH APLASIA, 562 LAR YNGO-TRACHEO-ESOPHAGEAL CLEFT, 577 Lcistenbruch, 529 Labyrinth of inner ear, defect of, 315,562 Lengua fisurada (Marcador), 953 Labyrinthine otosclerosis, 787 Laryngo-tracheo-Osophagealc Spaltc, 577 LARYNGOCELE, 575 Lengua geogr:ifica, 954 Labyrinthine otosclerosis with fixed stape~ Lcngua hendida, 952 footplate, 787 Laryngoceles: internal, external or com- bined, 575 Lengua plicada, 956 Lacrimal canaliculi Lens, (see Eye, lens) impatcnt, 229, 337,563,565,705 LARYNGOMALACIA, 576 Laryngozelc, 575 LENS AND PUPIL, ECTOPIC, 583 impatent at junction with nasal mucosa, Larynx, 163,257,352,401,406,571,572, LENS, ECTOPIC, 584 705 LENTICONUS, 585 supernumerary, 844 573,574,575,576,577, 599,634, 883, 918,919 Lenticular cataract, 132 LACRIMAL CANALICULUS ATRESIA, LENTIGINES SYNDROME, MULTIPLE, 563 aryepiglottic fold, abnormal and flutters on inspiration, 586 Lacrimal caruncle, defect of, 130 576 arytenoid, abnormal and flutters on inspi• Lentiginose profuse ou diffuse, 586 lacrimal duct impatency, 705 ration, lacrimal gland 576 Lentiglobus, 585 cricoid cartilage abnormal for size or displaced, 564 Lentigo maligna, 1005 shape, 919 hyperplastic, Ill Lenz microphthalmia, 662 epiglottis, abnormal and flutters on in- LACRIMAL GLAND, ECTOPIC, 564 Leopard syndrome, 586 spiration, 576 lacrimal passage ectasia, 565 LEPRECHAUNISM, 587 epiglottis, cleft, 634 lacrimal punctum Uri dyschondrosteosis, 308 epiglottis, short, 401,634, 883 Leri-Weill disease, 308 lateral displacement of, 732, 997 eversion of saccular mucosa of, 573 supernumerary, 844 LESCH·NYHAN SYNDROME, 588 glottic atresia in, 571 lacrimal sac LesiOn fetal par aminopterina, 380 hypoplasia of, 401 drainage opens onto skin, 565 Lethal syndrome of microcephaly with membranous web in, 574 multiple congenital anomalies, inflammation of, 337, 565, 705 140 obstruction of, 599 Lethargy, 492, 978 mucocele of, 705 saccular dilatation of appendix of, 575 Leucine-induced hypoglycemia, 513 LACRIMAL SAC FISTULA, 565 Larynx, congeriital flaccid, 576 lacrimal system, inflammation of, 337,844 Leucine-sensitive hypoglycemia, 513 lacrimation Late infantile systemic lipidosis, 432 Leucine-sensitive hypoglycemia of in- decreased, 102, 163,307,378,475 Late-occurring immunologic deficiency, 521 fancy, familial, 512 increased, 33 7, 355, 371, 414, 563, 705 Late-onset alactasia, 567 Leucodistrofias metacrom:iticas, 651 LACTASE DEFICIENCY, CONGENITAL, Late-onset lymphedema, 615 Leucodystrophie metachromatique, 651 566 Lateral nasal proboscis, 824 Leucokeratose esfobrante des muqueuses, LACTASE DEFICIENCY, PRIMARY, 567 Lateralc Gesichtsspalte, 374 681 LACTATE DEHYDROGENASE ISO· Lattice corneal dystrophy, 211 Leuconiquia, 589 ZYMES, 568 Laurence-Moon-Biedl-Bardet syndrome, Leuconychie, 589 lactate deshydrogenase, 568 578 Leukemogenesis, 383 lactato de~hidrogenasa,568 LAURENCE-MOON-BIEDL SYNDROME, Leukoderma, primary, 993 lactic acidemia without hypoxemia, 850 578 LEUKONYCHIA, 589 lactic and pyruvic acidemia with carbo- Laurence-Moon syndrome, 578 Leukonychia, knuckle pads, and deafness, hydrate sensitivity, 851 LCAT deficiency, 580 558 Lactic and pyruvic acidemia with episodic Lcber-Hamartom, 604 Leukonychia partiali~,striata, and totalis, ataxia and weakness, 851 LEBER OPTIC ATROPHY, 579 589 LACTOSE INTOLERANCE, 569 Leberaplasie, 463 Leukoplakische epithelia1e Naevi, 681 Laktat Dehydrogenase, 568 Lebersche congenitale Atrophic, 43 Leuzin-induzierte Hypoglykiimie, 513 Laktoseintoleranz, 569 Lebersche Opticusatrophie, 579 libido Lakuregebee, 886 Lecithin-Cholesterin-Acyl-Transferasc Mangel, decreased, 102, 556 Lamellar cataract, 132 580 loss of, 460, 982 landkartenzunge, 954 LECJTHIN:CHOLESTEROL ACYL lichen acuminatus, 811 Lane disease, 792 TRANSFERASE DEFICIENCY, 580 Lichen ruber acuminatus, 811 Langer-Giedion syndrome, 96 7 Lecitina: deficiencia de colesterol acil trans• LIDDLE SYNDROME, 590 langes, schmales, dorsal rotiertes Ohr, 325 ferasa, 580 lightwood syndrome, 862 Langue bifide, 952 Left atrial herniation, 805 Limb (also see parts and Joints) Langue fissuree, 953 Left common carotid artery arising from absence of, 451,875 Langue plicaturee, 956 innominate artery, 200 absence, partial (also see Phocomelia), Laringocele, 575 LEFT VENTRICLE, DOUBLE OUTLET, 242,459, 941 Laringomalacia, 576 581 anterior dislocation of lower, 121 1160 Index Limb (also see parts and Joints)~ Lingua nigra, 955 Liver (also see Section III, Table XXXIII) Continued Lingua plicata, 956 abnormal fixation, 748 asymmetry of,l29, 153, 190, 391,641, Lip, (also see Section III, Tables XII and absence of, 463 712,887,967,981 XIII) cirrhosis of, 237, 395,460,525,939, bowing of, 10, 122,290,391,510,557, cleft of, 158, 159, 160, 164, 168, 176, 978 648, 654, 783, 798 177,178,179,220,242,281,337, cirrhosis of, with onset in infancy, 116 bowing of lower, marked, 777 375,380,382,401,473,505,506, cyst, 465 bowing or angulation, unilateral, 641 578, 634,662, 724, 737. 769,818, cyst, multiple, 605, 662 bowing, progressive, 776 874, 875,883, 952 cyst, unspecified, 634, 859 contractures of lower, 759, 803 cleft, median of lower, 636, 771 ectopic, 467 decreased arm span, 685 cleft, median of upper, 595, 636, 770, failure of, 460 decreased motion of lower, 818 771,791 hepatitis, 7, 39, 381, 384, 385, 387, defect of, 231,455, 856, 987 drooping of lower, 626, 702 469,568 deformity of, progressive, 345 double lower, 594 hepatoblastoma, 458 deformity, severity of increased distally, double upper, 111, 554, 594 hepatomegaly (also see Section III, 88 everted, 190,333,511,629 Table XXX!ll) deformity of upper, secondary to large lower, 144 decrease in, after puberty, 426, 430 fracture, 391 mound on lower, 177 pulsatile, 969 "diamond" configuration of lower, 88 mucocele of lower, 144 hepatosplenomegaly, 143, 503,677, 679 difficulty using upper, 469 papillomas on, 412 infectious hepatitis, 27 flexion contracture of, 140, 431 pit or fistula on commissure, 596 portal hypertension, 149, 460, 465, 468, fracture of lower, 391 pit or fistula on lower, 176,177,596, 469, 605 gigantism of, 641, 648 818 progressive enlargement of, in 1st 6 mas, hypertrophy of, 55,458,712,998 pit or fistula on upper, 596 466 lateral bony protuberance of lower, 647 puckered, 121 progressive failure of, with onset in in- long, disproportionately, 189 retracted lower, 161 fancy, 116 long unilaterally, 641 squamous cell carcinoma of lower, systolic bruit or thrill over, 466 long and narrow, 474,630,696 144 transposed, 606, 888 lower more shortened than upper, 445 thick, 190, 352,587,599, 674,676, unspecified defect of, 446, 452, 748 medial bony protuberance of lower, 647 679, 754 Liver, cholesteryl ester storage, 151 micromelia, 293 thin, 887 Liver cyst, solitary but multilocular, 465 obesity of, 8, 445 thin upper, 102,162,242,967,1001 Liver cysts, multiple, 605 obesity of, proximal, 823 LIP, DOUBLE, 594 LIVER HAMARTOMA, 604 paralysis of lower, variable, 693 Lip, enlargement of lower, 144 LIVER, POLYCYSTIC DISEASE, 605 phocomelia, 242,455, 884, 941 LIP, MEDIAN CLEFT OF UPPER, 595 LIVER TRANSPOSITION, 606 severity of deformity increased distally, Lip pits and cleft lip or palate, 177 Lobe aberrant du poumon, 611 88 LIP PITS OR MOUNDS (MARKER), 596 Lobes des oreilles attaches, 323 shod, 9, 91, 231, 242, 250, 303, 346, LIPASE DEFICIENCY, CONGENITAL ISO- Lobes hepatiques accesoires, 592,876,883, 1001 467 LATED, 597 LOBO DO NTIA, 607 short, disproportionate lower, 510,641 Lipid fibroma, 360 Lobstein syndrome, 777 short, disproportionate with short distal Lipidose ester du a cholesterol, 151 Lobster claw deformity, 336 segment, 19, 20, 156, 646 Lipidosis, sulfa tide, 651 L6bulo de la oreja fisurado, 321 short, disproportionate with short middle Lipidosis with thrombocytopenia and angi- L6bulo pulmonar aberrante, 611 segment, 19,308,646, 647, 648,649 omata of spleen, 942 L6bulos auriculares engrosados e hiper- short, disproportionate prenatally with Lipochrome histiocytosis of females, 442 tr6ficos, 324 absent proximal segment, 967 Lipodermoid, 284 L6bulos de las orejas pegadas (Marcador), short, disproportionate prenatally with lipofuschinose du systeme nerveux, 713 323 lower limbs more affected than upper Lipofuscinosis neuronal ceroidea, 713 L6bulos hepaticas accesorios, 467 limbs,8 Lipoglycoproteinosis, 599 LOCALIZED ABSENCE OF SKIN, 608 short, markedly, 121,884 LIPOGRANULOMATOSIS, 598 LOCALIZED ABSENCE OF SKIN, BLISTER- short, progressively from proximal to Lipoid adrenal hyperplasia, 907 ING AND NAIL ABNORMALITIES, distal segments, 445 LIPOID PROTEINOSIS, 599 609 short, proportionate, 171, 345 Lipoid thesaurismosis, 360 Localized arrested tooth development, 739 short proximal portion of, 10,470, LIPOMAS, FAMILIAL SYMMETRIC, 600 Localized myositis ossificans, 700 941 Lipomatose de la face et du cou, 601 LOffelohr, 314 short upper limb to one half its normal Lipomatose von Gesicht und Hals, 601 LONG QT SYNDROME WITHOUT length, 875 Lipomatosis de la cara y del cuello, 601 DEAF• NESS, 610 spasticity of lower, 803, 924 LIPOMATOSIS OF FACE AND NECK, 601 Lordosis (also see Section Ill, Table XXIX) straight lower, 20 Lipomatosis simetrica familiar, 600 cervical, 103 symmetric defect, 875,981 Lipome dermorde, 284 lumbar, 20,250,290, 352, 412,557, thin, 105, 825, 895 LIPOMENINGOCELE, 602 646,678,687,689,754,828 upper more severely affected than lower, Lipomes symetriques familiaux, 600 lumbosacral spine, curvature of, 292 875 Lipomucopolysaccharidosis, 671 marked, 290, 646 limb-girdle muscular dystrophy, 691 Lippen-Klefer-Gaumenspalte, ektodermale thoracic, 394 LIMB-QTO-CARDIAC SYNDROME, 592 Dysplasie, Hand-und Fussfehlbildungen, LOsliche Malatdehydrogenase, 624, 625 LIMBAL DERMOID, 591 Oligophrenic, 179 Louis-Bar syndrome, 94 LINEAR NEVUS SEBACEOUS SYNDROME, Lippen-odcr Gaumenspalte und filiforme 593 Low-set ear, 327 Fusion der Augenlider, 176 Low sinus venosus type defect, linfangiectasia intestinal, 534 96 Lippcn-oder Gaumenspalte und Lippen• Low-tone deafness, 260 linfangioma de los hordes alveolares grtibchen, 177 Lowe syndrome, 736 dentarios, 613 Lippengrtibchen, 596 L-transposition with situs solitus, 540 Linfangioma orbitario, 765 Lippenspalte mit oder ohne Gaumenspalte, linfedema de instalaciOn precoz, 614 178 Lubs syndrome, 50 Linfedema tardio, 615 Lisinemia, 616 Luette bifide, 184 lingua fissurata types I, II, and Ill, 953 LISSENCEPHALY SYNDROME, 603 Lumbosacral lipoma, 602 Index 1161 Lung Macular cysts, 622 Malformaci6n artrogrip6tica de Ia mano atelectasis on side of eventration of Macular degeneration and fundus flavi• y sordcra neurosensorial, 89 diaphragm, 288 maculatus, 400 Malformaciones anorectalcs, 69 emphysema, 39, 120, 836 MACULAR DEGENERATION, VITELLI- Mal formaciones de los hucsesillos auriculares hypoplasia of left lung, 401 RUPTIVE, 622 y del oldo media, 773 hypoplasia of lung, 289, 634, 856 Macular pseudocysts, 622 ~:[a]formation artCrio-veineuse, 186 hypoplasia of right lung, 401, 879 Maculocerebral degeneration, 713 Malformations ano-rectales, 69 immature, 121 MADAROSIS, 623 1lalformations des osselets et de \'oreille Jack of segmentation, 401 Maffucci syndrome, 346 moyennc, 773 pulmonary agenesis on side of hemi- Magena tresie, 91 0 Malico-dChydrogCnase mitochondrialc, 624 facial microsomia, 457 1lagendivertikulum, 911 Malico-deshydrogenase soluble, 625 pulmonary anomaly, 531 11agnocellular nevus, 639 Malignant congenital mteopetrosis, 780 pulmonary bleeding, 611, 612, 767 Major motor seizures, 25,135,188,791, Malleus ra]es, 39 975 defect of, 28, 247,627,664, 773, 786 617 fused to atretic plate, 664 LUNG, ABERRANT LOBE, 611 Makrodontic, 618 fused to incus, 97 LUNG LOBE SEQUESTRATION, 612 Makrog\ossie, Makula-Kolobom und Brachydaktylie, 621 fused to tympanic plate, 97 Luxaci6n congCnita del cristalino, 584 Makuliire Hornhautdystrophic, 212 ~falnutrition(also sec Failure to thrive, In• Luxation congCnitale du cristallin, 584 de la methionine, 657 anition and Weight loss), 39, 192, 395, L-xylulosuria, 804 Malabsorbtion del g\ucosa-galactosa, 419 566,569,717,973 Lymph nodes Malabsorci6n de Ia vitaminc B , 992 at birth, 913 absence of usual nodes, 522, 524 Malabsorci6n 12 Malabsorci6n del glucosa-galactosa, 419 Malrotation, 537 inflammation of cervical nodes, 443 del tript6fano, 974 1-Ialrotation of midgut, 537 large, 48, 143,521,717 Malabsorci6n de Ia vitaminc B , 992 Malrotation of pancreas, 62 large cervical, 443,539 Malabsorption 12 de tryptophane, 974 Mammary gland large submandibular, 539 Malabsorption du glucose et du galactose, 419 breast, aberrant tissue, 815 small, 655 Malabsorption B (two types), rapid or slow, 412 Lymphangiectasie intestinale, 534 Malabsorption of vitamin 12 breast, enlargement, 437,438, Lymphangiom der Zahnleisten, 613 992 breast, failure of development, Malabsorption, small intestinal, 653 903 LYMPHANGIOMA OF ALVEOLAR with premalignant giant RIDGES, 613 ivlaladic coCliaque, 423 breasts, huge 412 Lymphangioma of mesentery, 645 Maladie d'Ebstein, 332 11broadcnomas, gender with large breasts for age, Lymphangiomatous macroglossia, 618 Maladie d'Oguchi, 740 female Lymphangiome de l'orbite, 765 Maladie de Best, 622 587 galactorrhea, 350 Lymphangiome gingival, 613 Maladie de Fabry, 373 gynecomastia, 47, 93,556,855,902 Lymphatic cyst of mesentery, 645 Maladie de Fanconi, 864 nipples, illusion of \Videly spaced, 720 Lymphatic vessels Maladie de Gaucher, 406 nipples small, 171,242,981 ahscnt or small, 615 Maladie de Hartnup, 453 nipples supernumerary, 815 large, 615 Maladie de Kyrle, 561 nipples widely spaced, 121, 140 lymphangiectasia, small intestinal, 55 Maladic de Leber, 43 892 polymastia, 574 lymphedema of skin on foot, 977 Maladie de Minkowski-Chauffard, rapid growth of breast with onset at puber• 720 Maladic de Niemann-Pick, 717 lymphedema, peripheral, ty or first pregnancy, 412 obstruction of thoracic duct and Maladie de Norrie, 721 Mandible (also see Section III, Table XXVI) chylous ascites, 534 Maladie de Pcndred, 249 ankylosis of condyles of, 229,451,749 Lyphedema forme tarde, 615 Maladic de Sturge-Wcbcr, 915 ramus of, 735 Lymphedema praecox, 615 Maladie de Tangier, 48 asymmetric 470 LYMPHEDEMA I, 614 Maladie de von Wille brand, 996 broad, LYMPHEDEMA II, 615 Maladie de Wolman, 1003 cleft, 17,636,952 lower border of, 627 Lymphocytophisis, 524 Maladie de Ziehen-Oppenheim, 957 concave condyle adjacent to mastoid process, 664 Lymphoedeme ii debut tardif, 615 Maladie des inclusions cytomegaliques, 381 LymphoCdCme congenitale, 614 Maladie des urines a odeur de sirop cyst of, midline, 291 Lymphopenic agammaglobulinemia, auto- d'erable, 628 exostoses on lingual surface of, 958 somal recessive, 522 Maladie granulomatCine chronique observCe flat angle of, 506 L YSINEMIA, 616 chez les femmes, 442 large, 228, 847 chronique atteignant Lysin uric protein intolerance, 491 Maladie granulomateusc obtuse gonia\ angle of, 180, 626, 846, 847 Lysyl hydroxylase deficiency, 338 lcs garr;ons, 443 prominent, 18, 159 Maladie polykystique du foie, 605 pseudoprognathism, 14,112,161,162, MALATE DEHYDROGENASE, MITO• I 78, 352, 941 CHONDRIAL (MARKER), 624 small, 159 M MALATE DEHYDROGENASE, SOLUBLE smooth, round mass on, 360 (MARKER), 625 swelling of angles of, 539 M3.choires a c\ignotement, 548 Mala to deshidrogcnasa mitocondrial thickening of, 190, 318,413,497, 737, Macrocephaly (see Section III, Table (Marcador), 624 880 XXIX) Malato deshidrogenasa soluble (Marcador), tumors of, 101, 118,280,536,539,711 MACRODONTIA, 617 625 unilateral hypoplasia of condyle of, 457, Macrogenitosomia praecox, 908 Malattia levan tin esc, 734 735 MACROGLOSSIA, 618 Male gender with female escutcheon, 438 Mandibular cleft, median, 636 Macroglossia, omphaloccle and viscero- Male gender with feminization, 971 Mandibular enlargement, 958 megaly syndrome, 104 Male habitus, premature development of MANDIBULAR PROGNATHISM, 626 Macrostomia, 374 mature, 908 MANDIBULOFAC!AL DYSOSTOSIS, 627 MACROTIA, 619 Male pseudohennaphroditism due to steroid Mangel an Thyroxin-bindendem Globulin, Macula (also see Section III, Table XXIV) 17 ,20-desmolase deficiency, 904 950 MACULA, HETEROTOPIC, 620 Male pseudo-precocious puberty, 720 MAPLE SYRUP URINE DISEASE, 628 MACULAR COLOBOMA AND BRACHY- Male, secondary gonadal atrophy in young, Marble bone disease, 779, 780 DACTYLY, 621 460 Marcus Gunn phenomenon, 548 Macular corneal dystrophy, 212 Male Turner syndrome, 720 MARDEN-WALKER SYNDROME, 629 1162 Index MARFAN SYNDROME, 630 MEGALOCORNEA, 637 Me~omelicdwarfism, Nievergclt type, 64 7 Marie-Sainton disease, 185 MEGALOCORNEA-MF.NT AL RETARD- Mcsomelic dwarfism of the hypoplastic ulna, Marked backward motion of knee, 65 I ATION SYNDROME, 638 fibula, mandible type, 646 Maroteaux-Lamy syndrome, 679 Meige type lymphedema, 615 Mesomelic dwarfism, type Robinow, 876 Marshall syndrome, 261 Mekoniumileus, isolicrt, 545 Me~omelicdwarfism with hemivertebrae Masculinizing male hermaphroditism (Jones), MELANOCYTOMA, 639 and small genitalia, 876 831 Mdanose oculaire, 716 MESOMELIC DYSPLASIA, LANGER TYPE, Ma ~culinizingmale p<>cudohermaphroditi <;Ill Melanosc oculaire conf!Cnitalc, 640 646 (Jones), 831 Melanosis bulbi congenitali~,640 MESOMELIC DYSPLASIA, NIFVERGELT .Maumcncc syndrome, 207 Melanosis ocular, 716 TYPE, 647 Maxilla (also ~ccSection ITT, Table XXVI) MELANOSIS OCULI, CONGENITAL, 640 MESOMELIC DYSPLASIA, REINHARDT• broad, 470, 791 Mdnick-Ncedles syndrome, 775 PFEIFFER TYPE, 648 cleft of, 178 MELORIIEOSTOSIS, 641 MESOMELIC DYSPLASIA, WERNER cleft of premaxilla, 631 Melorhcostosis Lcri, 641 TYPE, 649 cy~tof, midline, 291 Melo~chisis,375 Mesotaurodontism, 926 defect of, 28 Membrana larlngca, 574 Metabolic craniopathy, 498 hypoplastic zygomatic arch of, 112, Membranom choana! atresia, anterior, 723 Metacarpal bones 627,735 Membranou~choana! atresia, posterior, 727 broad, 308 large, 390 Membranous septal defect, 989 fusion of, 231 pseudoprognathism, 14,112,161,162, Membranous subaortic stenosis, 916 fusion of 3rd and 4th, 923 178, 352, 941 MEN I syndrome, 350 fusion of 4th and 5th, 923 smooth, round mass on, 360 MEN II syndrome, 351 fusion of 5th and 6th, 17 tumors of, 101, 118, 280,536, 711 MEN III syndrome, 352 long, 629 unilateral hypoplasia of, 457 Mendes da Costa syndrome, 361 long 2nd, 185 MAXILLA, MEDIAN ALVEOLAR CLEFT, Meniere disease, familial, 248 mild shortening of, 1000 631 Meningeal capillary angiomatosis, 915 short, 16, 20, 21, 66,101,114,121, Maxillopalpebral synkinesis, 548 MENINGOCELE, 642 163, 189, 231, 306, 308, 358, 392, Mb. Fabry, 373 Meningocele, 635 570,875,966,982 Mb. Gaucher, 406 cervical spina bifida with, 642, 727 short metacarpals of ulnar digits, 981 l-.1b. Hirschsprung, 1 92 Meningocele, orbital, 762 short 1st, 160, 242, 700,853, 1001 Mb. Krabbe, 415 Meningomyelocele, 160,481,693 short 4th, 830 Mb. Norrie, 721 Mcningozele, 642 short 5th, 830 Mb. Oguchi, 740 MENKES SYNDROME, 643 MET ACHONDROMATOSIS, 650 Mb. Pclizaeus-Merzbacher, 803 Menschliche Allotypen, 476 Metachromatic form of diffuse cerebral Mb. Pyle, 847 Menstruation sclerosis, 651 Mb. Sturge-Weber, 915 amenorrhea, 469 METACHROMATIC LEUKODYSTRO- Mb. Tangier, 48 amenorrhea, primary, 93,682, 720,977 PHIES, 651 Mb. von Willebrand, 996 amenorrhea, secondary, 720 Metacondromatosis, 650 McArdle disease, 698 delayed, 720, 823 Metamorfosis grasosa visceral familiar, 990 McCune-Albright syndrome, 391 oligomenorrhea, 730 MCtamorphose graisseuse des viscercs, 990 MCDONOUGH SYNDROME, 632 pelvic discomfort during, 971 Metaphysiire Chondrodysplasie, geistige MECKEL DIVERTICULUM, 633 vaginal bleeding before puberty, 391 Rctardierung und Schalleitungs• MECKEL SYNDROME, 634 vaginal bleeding in infancy, 391 SchwerhOrigkeit, 250 Meckelschc~Divcrtikcl, 633 very irregular, 412,702,823 Mctaphysare Chondrodysplasie mit Thymo• Meconium Mental deterioration, 86, 93, 103,406, lymphopenie, 655 ileus, 237 432,478,598,651,676, 702,713, Mctaphysiire Chondrodysplasie, Typ Jansen, inadequate passage of, in neonatal 730, 744 652 period, 192 progressive, 86,255, 310,406,478,677 Metaphysare Chondrodysplasic, Typ McKusick, inspis~ated,545 Mental retardation (see Section Ill, Table 653 in urine, 69 XXlll) Metaphysiire Chondrodysplasie, Typ Schmid, Meconium ileus, isolated, 545 Mental retardation and xeroderma, I 004 654 MEDIAN CLEFT FACE SYNDROME, Mental retardation, seizures and adenoma METAPHYSEAL CHONDRODYSPLASIA, 635 ~cbaceum,975 TYPE JANSEN, 652 Median cleft of nose "doggennose," 724 Mental retardation with osteocartilaginous METAPHYSEAL CHONDRODYSPLASIA, Median cleft of upper lip, 595 anomalie~,190 TYPE MCKUSICK, 653 MEDIAN CLEFTS OF LOWER LIP, Mentation (~eeSection III, Tables XXIII METAPHYSEAL CHONDRODYSPLASIA, MANDIBLE AND TONGUE, 636 and XXXVI) TYPE SCHMID, 654 Median incisal diastema, 291 MentOn tremulo, 147 METAPHYSEAL CHONDRODYSPLASIA Median rhomboid, glossitis, 417 MESENCHYMAL DYSPLASIA OF WITH THYMOLYMPHOPENIA, 655 Mcdiane Overkieferspalte, 631 PURETIC, 644 Metaphyseal dysostosis, type ]amen, 652 Mediastinal defects Mesenchymal hamartoma of liver, 604 Metaphyseal dysostosis, type Schmid, 654 abdominal viscera displaced into lower Mesenterial Zystcn, 645 Metaphyseal dysostosis with Swiss type lateral mediastinum, 289 MESENTERIC CYSTS, 645 agammaglobulinemia, 655 mediastinal shift contralateral to eventra• Mesiodens, 936 Metaphyseal dysplasia, familial, 847 tion of diaphragm, 288 Mc~oectodermaldysgenesis of anterior seg• Metatarsal bones round mass in posterior mediastinum ment, 439 extra, 649, 885 continuous with esophagus, 368 Mesoectodermal dysgenesis of iris and fusion of 3rd to 1st and 2nd, 22 Mediterraneaq anemia, 939 cornea, 439 fusion of 3rd and 4th, 923 Medullary thyroid carcinoma and pheo- Mesoeetodermal dysplasia, 156 fusion of 4th and 5th, 22,923 chromocytoma syndrome, 351 Mesomele Dysplasie, Typ Langer, 646 fusion of 5th and 6th, 17 Medullary thyroid carcinoma syndrome, 351 Mesomele Dysplasie, Typ Nievergelt, 647 long, 629 Medulloblastoma, 188 Mesomele Dysplasie, Typ Reinhardt-Pfeiffer, partial duplication of 1st, 22 Meesmann corneal dystrophy, 210 648 partial duplication of 2nd, 22 Megaesophagus, 363 Mcsomele Dysplasie, Typ Werner, 649 short, 20, 21,163,810,875 Megakaryocytopenia with radius aplasia, Mesomelic dwarfism and Madelung de• single broad metatarsal associated with 941 formity, 308 great toe and 2nd toe, 22 Index 1163 short 1st, 183, I 001 Miosis and partial ptosis, 475 Movements short 4th and 5th, 830 Miositis osificante, 700 extreme slowness of, 746 Metatropic dwarfism, 656 Miotonfa congenita, 701 involuntary, 421 META TROPIC DYSPLASIA, 656 Miotonfa distr6fica, 702 purposeless, 808 Meta tropic dysplasia, type II, 557 Mitochondrale Myopathic, 694 MOYNAHAN SYNDROME, 670 Metatropischer Zwergwuchs, 656 Mitochondrial malate dehydrogenase, Mozart ear (Marker), 328 METHIONINE MALABSORPTION genetic variant of, 624 Mozart-Ohr, 328 SYNDROME, 657 Mitochondrial myopathy, 694 MPS I, 674 METHYLMALONIC ACIDEMIA, 658 Mitral Insuffizienz, 666 MPS II, 676 Methylmalonic aciduria, 658 Mitral regurgitation due to isolated cleft MPS III, 677 Michel malformation of inner ear, 562 posterior leaflet of mitral valve, 666 MPS IV, 678 Micrencephaly, 220 Mitral valve MPS V, 675 spongoid, 881 insufficiency, 347,630,667,999 MPS VI, 679 Microcefalia, 659 stenosis, 381 Mucolipidose de type I, 671 MICROCEPHALY, 659 MITRAL VALVE ATRESIA, 665 Mucolipidose de type II, 672 Microcephaly (see Section Ill, Table XXIX) MITRAL VALVE INSUFFICIENCY, 666 Mucolipidose de type III, 673 Microcystic renal disease, 709 MITRAL VALVE INSUFFICIENCY, DEAF- MUCOLIPIDOSIS I, 671 Microcythemia, 939 NESS AND SKELETAL MALFORMA• MUCOLIPIDOSIS II, 672 MICRODONTIA (MARKER), 660 TIONS, 667 MUCOLIPIDOSIS III, 673 Microencephaly, 659 MITRAL VALVE PROLAPSE, 668 Mucopolisacaridosis Tipo I, 674,675 Microesferofaquia, 663 MITRAL VALVE STENOSIS, 669 Mucopolisacaridosis Tipo II, 676 Microftalmia, 661 Mitralklappe11-A tresie, 665 Mucopolisacaridosis Tipo III, 677 Microftalmia con anomalfas digitales, 662 Mitralstenose, 669 Mucopolisacaridosis Tipo IV, 678 Microgastria, 91 3 Mittlere Unterlippen-Unterkiefer-Zungen Mucopolisacaridosis Tipo V, 675 Micrognathia and glossoptosis syndrome, 182 spalte, 636 Mucopolisacaridosis Tipo VI, 679 Microphtalmie, 661 Mittlere Unterlippenspalte, 595 Mucopolisacaridosis Tipo VII, 680 Microphtalmie avec anomalies digitales, 662 Mixed cyst on head or neck, 283 Mucopolysaccharidose de type I, 674, 675 MICROPHTHALMIA, 661 Mixed gonadal dysgenesis, 173 Mucopolysaccharidose de type II, 676 MICROPHTHALMIA AND DIGITAL Mixed hearing loss (see Section III, Table Mucopolysaccharidose de type III, 677 ANOMALIES, 662 XXV) Mucopolysaccharidose de type IV, 678 Microphthalmia, gingival fibromatosis, Mucopolysaccharidose de type V, 675 Mixed porphyria, 822 depigmentation, oligophrenia and Mucopolysaccharidose de type VI, 679 Mixed tumor, salivary gland, 878 athetosis, 413 Mucopolysaccharidose de type VII, 680 MObius syndrome, 376 Microphthalmos, 661 F," 398 Mohr syndrome, 771 "Mucopolysaccharidosis Microsomia hemifacial, 457 MUCOPOLYSACCHARIDOSIS 1-H, 674 MICROSPHEROPHAKIA, 663 Molar tooth MUCOPOLYSACCHARIDOSIS 1-S, 675 Microstomia, agnathia and synotia, 28 central pit on occlusal surface, 276 MUCOPOLYSACCHARIDOSIS II, 676 MICROTIA-ATRESIA, 664 duplicated pulp chamber of, 784 MUCOPOLYSACCHARIDOSIS III, 677 Microtia, facial clefting, hypertelorism, 506 globe-shaped crown on, 784 MUCOPOLYSACCHARIDOSIS IV, 678 Middle car and ossicle malformations, 773 impacted 3rd, 932 MUCOPOLYSACCHARIDOSIS VI, 679 Middle ear aneurysm of internal carotid peg-shaped 3rd, 934 MUCOPOLYSACCHARIDOSIS VII, 680 single large root, 607 artery, 530 Mucosa plegada, blanca displisica, 681 small root, 926 Middle car chemodectoma, 145 single pulp chamber with MUCOSA, WHITE FOLDED DYSPLASIA, Middle ear, genitourinary anomalies, 860 variable crown or cusp, 607 681 777 Middle car malformations with hearing loss, Mollities ossium, Mucosal neuroma syndrome, 352 773 Mondini-Alexander malformation of inner Muco-viscidose-fibrose kystique du pancreas, Midfrequency sensorineural deafness, 267 ear, 315 237 Midsystolic click-late systolic murmur syn- Mongolism, 171 Mucoviscidosis, 237 drome, 668 Monochromasle, 195 Mulberry molars, 342 195 Migeon syndrome, 25 Monochromatische Blau-Blindheit, MULLERIAN APLASIA, 682 283 Mikrodontie, 660 Monodennoma of head or neck, MULLERIAN DERIVATIVES IN MALES, Mikrophthalmic, 661 Monosomic G de type I, 170 PERSISTENT, 683 Mikrophthalmic und Fingerderformitaten, Monosomic G de type II, 172 MULLERIAN FUSION, INCOMPLETE, 684 662 Monosomic partielle llq, 162 Mikrosphlirophakie, 663 Monosomy-G syndrome type I, 170 MULTIPLE CARTILAGINOUS EXOSTOSES, Mikrotic und Atresic, 664 Monosomy-G syndrome type II, 172 685 Mikrozephalie, 659 Monosomy X, 977 Multiple choristomas, convulsions and Mikulicz disease, 799 Morgagni-Stewart-Morel syndrome, 498 mental retardation, 593 Milestones, delayed (see Section III, Morquio syndrome, 678 Multiple circumscribed lipomas, 600 Table XXIII) Morquio-Ullrich syndrome, 678 Multiple compact osteomata, 318 Milroy disease, 614 Mosaic gonadal dysgenesis, 173 Multiple congenital articular rigidities, 88 Milzzysten, 240 Mosaic 21 syndrome, 171 Multiple congenital dislocations with unusual Miopatia con acidemia lictica, 697 Motor retardation (see Section III, Table facies and skeletal abnormalities, 570 Miopatia miotubular, 695 XXIII) Multiple enchondromatosis, 345 Miopatia mitocondrial, 694 Mouth Multiple endocrine adenomatosis, type I, Miopatfa par altcraci6n enzimol6gica cleft of, 374, 375 350 parcial vermiforme de Ia fibra muscular corners turned downward, 158, 159, Multiple endocrine adenomatosis type II, esqueletica, 696 164,242,603,876,887,943 351 Miopfa, 699 deep furrows around, 1 OS Multiple endocrine adenomatosis, type lib, Miopfa, catarata, nariz en silla de montar, large, 121, 190, 375,457,469, 543, 557, 352 hipertelorismo, estatura baja y perdida 627' 735, 754, 876 Multiple epiphysiire Dysplasie, 358 de Ia audici6n neurosensorial de limited opening of, 160, 882 Multiple exostoses, 685 moderada a sevcra, 261 opens on upward gaze, 548 Multiple familial benign nodular intraepi· Miopia, telecanto secundario (hipertelorismo) small, 28, 155, 160,223,451,506,578, dermal basal cell epithelioma, 235 y perdida severa de Ia audici6n 627,629 Multiple glomus tumors, 416 neurosensorial, 732 triangular, 754, 823, 876 Multiple hamartoma syndrome, 412 1164 Index Multiple hemangiomas of skin and internal symmetric decrease in, 895 difficulty in lifting arms over head, 691 organs, 113 Muscle tone (also see Section III, Table XXX) small pectoralis major, 376 Multiple Kartilagin:lre Exostosen, 685 decreased, 93,107, ll5, 122,134, 158, weakness in shoulder girdle, 691 Multiple leiomyomas of skin, 890 159,163,171,172,188,352,398, unspecified defect of shoulder girdle or Multiple lentigines syndrome, 586 403,421' 425,486,491' 492,499, upper arm, 901 Multiple peripheral pulmonary stenosis, 543,578,587,603,638,651,686, Muscles of trunk mixed deafness, brachytelephalangy, 689, 695,696, 736, 754, 783, 850, atrophy of, 924 calcification of cartilages, 263 873,891,895,940,946,967,990, defect of diastasis recti, 118, 121, 163, Multiple symmetric lipomatosis, 600 999 505,587,632 Multiple synostoses and conduction deaf• decreased in infancy, 434,897 hypotonia in, 161 ness, 1001 episodic decrease in, 628, 794, 795, 796 Muscles, intercostal, weakness of, 152 Murray syndrome, 411 hypotonia produced by cold or exercise, Muscles of pelvic girdle and lower limb Muscle atrophy (also see Muscle by body 125,698,794, 795, 796 atrophy around knee, 560 parts, characteristics and Section III, hypotonia produced by food, hunger or atrophy of lower limb, 270, 292, 629, Table XXX), 48, 88, 107, 155,275, emotion, 125,794, 795 998 508,629, 630,644,695, 696, 759, increased, 158, 160,165, 166,170, 242, compensatory hypertrophy around knee, 785, 810 406,492,755 560 musculature poorly developed, 88, 163, increased in lower limb, 161,295 marked atrophy of lower limb, 275 290 increased in upper limb, 161 weakness in pelvic girdles, 691 overlying bone defect, 641 intermittent hypertonia, 115 weakness of lower limb, 292, 678, 924 replaced by fat, 88 lack of, 139, 823 Muscular central core disease, 134 with onset after puberty, 687,688,691, marked decrease, 139, 823 MUSCULAR DYSTROPHY, ADULT 702 myotonia, constant, 701,702 PSEUDOHYPERTROPHIC, 687 with onset in childhood, I 34, 686, 689, rigidity, 432,469,478,515,603,743, MUSCULAR DYSTROPHY, AUTOSOMAL 690,691,702 744, 746,964 RECESSIVE PSEUDOHYPER• with onset in infancy, 134, 686 unspecified decreased muscle tone, 165, TROPHIC, 688 Muscle defect, general (also see Section 671, 823 Muscular dystrophy, Becker, 687 Ill, Table XXX) unspecified delayed relaxation of muscle, MUSCULAR DYSTROPHY, CHILDHOOD nonprogressive, 125, 134,686,691, 694, 155 PSEUDOHYPERTROPHIC, 689 695,696, 698, 701, 794, 795, 796 Muscle volume MUSCULAR DYSTROPHY, DISTAL, 690 rapid progression of, 11, 116, 689, 700 allusory increase, 687, 688, 689, 691 MUSCULAR DYSTROPHY, LIMB• slow progression of, 124, 125, 688, 694, increased, 155, 701 GIRDLE, 691 695, 696, 698, 794, 795 Muscle weakness, 2, 26, 48, 1 00, 143, 290, MUSCULAR DYSTROPHY, OCULO- Muscle fatigability or weakness 398, 432,590, 697' 810, 822, 847, PHAR YNGEAL, 692 increased, 47, 80,290,429,430,794 851,873,895,944,949 Muscular macroglossia, 618 overlying bone defect, 641 Muscle weakness overlying bone defect, 641 Muscular subaortic stenosis, 917 unspecified weakness, 2, 26, 48, 100, Muscles, diaphragmatic Muscular system (see Muscle by body parts, 143,290,398,432,590,697,810, abdominal viscera displaced into thoracic characteristics, and Section III, 822,847,851,873,895,944,949 cavity, 289 Table XXX) MUSCLE HYPOPLASIA, CONGENITAL diaphragmatic hernia, 104, 382, 727 MUsculo papilar Unico del vcntrlculo UNIVERSAL, 686 diaphragmatic paralysis with 2° scapular izquicrdo, 582 Muscle papillaire unique du ventricule involvement, 221 gauche, 582 elevated position of diaphragm, 288 Muskcldystrophie, Typ Duchennc, 689 Muscle paralysis paradoxical motion of leaf of diaphragm, Muskcldystrophie, Typ Welander, 690 hypokalemic, periodic, 100 288 Muskuliire Subaortenstenose, 917 ketosis, 125 Muscles of face or neck Mutilating keratoderma, 259 transient, flaccid, induced by cold, 794, atrophy of neck muscle, 924 MYELOMENINGOCELE, 693 795, 796 hypoplasia of, ipsilateral to microtia, Myeloschisis, 292, 693 transient, flaccid, induced by emotion, 664 Myoblastic myoma, 360 infection or anesthesia, 794, 795 persistent weakness of cervical muscles, Myoblastoma, 360 transient, flaccid, induced by exercise, 152 Myoclonic petit mal, 135 125 unilateral hypoplasia of, 457 Myoclonic variant of cerebral lipoidosis, transient, flaccid, induced by food, 795 weakness of, 12, 697 713 transient, flaccid, induced by hunger, 794 Muscles of foot transient, flaccid, induced by high fat atrophy of, around ankle, 560 Myoepithelial tumor, 360 diet, 125 compensatory hypertrophy of, around Myogenic stiff ptosis, 834 transient, flaccid, induced by rest after ankle, 560 Myogenic xanthoma, 360 exercise, 698, 794, 795 marked atrophy of, 275 Myopathic ophthalmoplegia externa, 752 transient, flaccid, induced by starvation Muscles of hand Myopathic avec acidCmie lactique, 697 with ketosis, 125 atrophy of, 270, 924 Myopathic (forme des ceintures), 691 Muscle phosphorylase deficiency, 698 decreased strength in distribution of Myopathic mit Laktatacid:lmie, 697 Muscle strength, general ulnar nerve, 89,450 Myopathic mitochondrialc, 694 decrease in, 430,460,508,671,776, decreased tone of, 152 Myopathic myotubulaire, 695 820, 864 marked atrophy of, 275 Myopathic nCmalinc, 696 generalized decrease in strength with onset nonprogressive atrophy of hypothenar, Myopathic pseudo-hypertrophique de l'adulte, in infancy, 686, 694 89,450 687 mainly distal decrease in early childhood, non progressive atrophy of interosseous, Myopathy, megaconial, 694 690,702 89, 450 MYOPATHY, MITOCHONDRIAL, 694 mainly proximal decrease, 124, 125, nonprogressive atrophy of thenar, 89, 450 MYOPATHY, MYOTUBULAR, 695 687,688,691,692,698,794,795, small extensor pollicis brevis or longis, MYOPATHY, NEMALINE, 696 796, 895 175 MYOPATHY WITH LACTIC ACIDEMIA, mainly proximal decrease with onset in weakness of, 270, 924 697 early childhood, 688, 689 Muscles of shoulder and upper limb MYOPHOSPHORYLASE DEFICIENCY, mainly proximal decrease with onset in atrophy of upper limb, 270, 629 698 infancy, 11, 116, 134,694,695, aplasia of sternal head of pectoralis Myophosphorylase Mangel, 698 696 major, 813 MYOPIA, 699 Index 1165 Myopia (also see Astigmatism, Nearsighted- elliptical, 21 attachment of soft palate to posterior, ness and Refractive error) everted edges of, 559 707 high-grade nearsightedness, 35,261,750 fibromas in nailbed, 975 cyst in wall of, 706 major refractive error, 757 fissured center of, 559 shallow, 707 nearsightedness, 90, 155, 182, 229, 242, flat, 846 soft tissue membrane in, 727 384,449,474,557,585,630,663, grooved, 281 wide, 180 720,732,893,897,976,986 hyperkeratosis of, 45 Natal or neonatal teeth, 933 nearsightedness from birth, 699 infection of nailbed, 334 Nathalie Syndrom, 785 nearsightedness with onset before narrow, 704 Natural earring holes, 322 puberty, 251,699 new growth in nailbed, 411 Nausea, 12, 26, I 02, 188, 395,428, 793 Myopia and external ophthalmoplegia, 750 pitted, 38, 833 after fructose ingestion, 395 Myopia, cataract, saddle nose, hypertelorism, ridged, 38, 102,259,811 induced by exercise, 428 short stature, and moderate-to-severe separation from nailbed at distal Nearsightedness (also see Myopia), 35, 90, sensorineural hearing loss, 261 portion of, 45, 833 155, 182,229, 242,251,261,384, Myopia, cochlear deafness and intellectual slow growing, 511 449,474,557,585,630,663,699, impairment, 251 small, 16, 21, 66, 102, 156, 262, 511, 720,732,750,757,893,897,976, Myopia unilateral, 59 570,621, 825 986 Myopic, 699 smooth, 45 Neck (also see glands by name and Section Myopic, cataracte, ensellure nasale profondc, smooth surface, 264 Ill, Table XXVII) hypertetorisme, nanisme, et surditC de thickened, 131, 334,789 branchial arch cyst, 117 perception d'intensite variable, 261 thin,511,559 branchial arch fistula, 117, 247, 329 Myopie, hypertelorisme et surdite de percep- NAIL-PATELLA SYNDROME, 704 branchial arch sinus, 117 tion severe, 732 Nanisme a nez camus, 305 broad, 720, 896 Myopie, Katarakt, Sattelnase, Hypertelorismus, Nanismc ii tCtc d'oiscau, 881 cleft of anterior midline structures of, Kleinwuchs, lnnenohrschwerhOrigkeit, Nanisme de type L1ron, 302 636 261 Nanismc dia~trophique,293 cyst between hyoid bone and thyroid Myopie, Telecanthus (Hypertelorismus) und Nanisme metatropique, 656 gland, 575 InnenohrschwerhOrigkeit, 732 Nanisme panhypopituitairc, 303 cyst that moves upward when swallowing, MYOSITIS OSSIFICANS, 700 Nanisme parastrematique, 798 945 Myositis ossificans, progressive, 700 Nanismc pituitaire avec anomalie de ]a scllc limited movement of, 103 Myotone Dystrophic, 702 turciquc, 304 short, 9, 103,140,155,157,158,163, Myotonia atrophica, 702 Nanismc thanatophore, 940 166, 171' 242, 389, 676,678,720, MYOTONIA CONGENITA, 701 Nanophthalmia, 661 830, 896, 898 Myotonia congenita intermittens, 796 Nape nevus, 715 sinus at or near midline of, 945 MYOTONIC DYSTROPHY, 702 Nariz de dogo, 724 stiffness of, J 03, 188 Myotonic myopathy, dwarfism, chondro- Nasal and nasopharyngeal tumors, 237, torticollis, 957 dystrophy, ocular and facial abnor• 283, 285, 343, 370, 726 tumor of, II 7, 127, 283 malities, 155 Nasal bridge webbed, 51, 158, 382,578,586,720, Myotonie congCnitale, 701 flat (depressed), 10, 13,14,105, 121, 977 Myotubular myopathy, 695 122,153,157,158,159,168,171, Neck veins (also see Heart) Myotubutarc Dystrophic, 695 172,242,261, 302, 305, 333, 382, accentuated jugular A waves, 917 385,388, 395,401,504,557,570, cannon A waves of, 454 587,593, 674, 732, 786, 880, 893, neck vein distended, 454, 969 940 prominent V waves of, 969 N midline pit or fistula of, 283 Necrotizing, infantile subacute encephal• obtuse frontonasal angle, 627 opathy, 344 Nachtblindheit, 718 prominent, 22,112,119,140,164,167, Nefritis hereditaria y sordera neural, 708 NAEGELI SYNDROME, 703 168,170, 229,231,555, 738, 754, Nefropatla, perdida de Ia agudeza auditiva Naevi a cellules basales, 101 825, 856, 860, 997, 998, I 001 neuro-sensorial hiperprolinuria c Naevus flammeus, 715 Nasal cavity ictiosis, 258 Nagel-Patclla-Syndrom, 704 choanal atresia, 389,627,724,727 Ncfrosis cong6nita, 709 Nail abnormalities, localized absence and obstruction of, 224,228, 726,727 Ncfrosis familiar, 710 blistering of skin, 609 reduced nasal airway, 707 Neill-Dingwall syndrome, 189 Nail absent, 66 Nasal crease, 728 Nekrotisierende Enzcphalopathic, 344 Nail dysgenesis and hypodontia, 511 Nasal dermoids, 283 Nemalinc myopathy, 696 Nail dystrophy and sensorineural deafness, Nasal duplication, 725 Neonatal familial primary hyperparathyroid- 252 Nasal glioma, 726 ism,499 Nail, hair, bone and tooth dysplasia, 965 Nasal groove, familial transverse, 728 Neonatal hemochromatosis, 460 Nails (also see Section III, Table XXVIII) Nasal septum Neonatal hepatitis, 39 brittle or splitting, 704, 811, 965 deviated, 225,229,271 Neonatal hypomagnesemia with selective broad, 16 duplicated, 724 malabsorption of magnesium, 514 clubbing of, 27, 788 extends below wings of nostril, 119 Neonatal nephrosis, 709 color change of, 37,281,558,589,615, has slit-like openings, 725 Neonatal or natal teeth, 933 81 I, 965 nasal columella, broad or short, 724 Neonatal seborrheic diathesis, 812 or spoon-shaped, 281, 5ll, 559 concave thick, 190 Neoplasia end6crina mUltiple tipo I, 350 160, 168,281, defect of, 15, 38, 65, 102, Nasengliom, 726 Neoplasia end6crina mUltiple tipo II, 351 334, 337,382,615,703, 825, 833, NASOLACRIMAL DUCT IMPATENCY, Neoplasia end6crina mUltiple tipo Ill, 352 880 705 Neoplasmas del SNC, 188 156, 179, 252, 259, 409, 609, Nasopharyngeal atresia, 707 deformed, Neoplasms of CNS, 188 621 NASOPHARYNGEAL CYSTS, 706 depigmented, 37,281,558,589,615, NASOPHARYNGEAL STENOSIS, 707 NEPHRITIS AND NERVE DEAFNESS, 811, 965 Nasopharyngeal teratomas, 283 HEREDITARY, 708 dystrophic, 15, 38, 65, 102, 156, 160, Nasopharyngeal Zysten, 706 Nephritis with hearing loss, 708 168,179,252,259,281,334,337, Nasopharynx (also see Section III, Table Nephrogenic diabetes insipidus, 287 382,409,609,615,621,703,825, XXVI) Nephropathic cystinosis, 238 833, 880 agenesis of adenoid, 27, 655 NCphropathie h6rCditaire avec surdit6, 708 1166 Index Nephropa thie, Inncnohrschwer hi:irigkcit, Noninverted transposition, 962 0 Hyperprolinuric und Ichthyose, Nonketotic hyperglycinemia, 492 258 Nonne-Milroy type hereditary lymphedema, Oast-house urine disease, 657 Ni:phropathie, surditi: neuroscnsorielle, 614 Obesite, hyperthermic oligomenorrhee et hypcrprolinurie et ichtyose, 258 Nonopalescent opalescent dentine, 278 tumefaction de Ia parotide, 7 30 Nephropathy with deafness, hereditary, 708 Nonpapillary hyalinizing hydradcnoma, 235 Obesity, 106,441,447,496,498,578,730 NEPHROSIS, CONGENJT AL, 709 Nonparasitic hepatic cyst, 465 limb, 8, 455 NEPHROSIS, FAMILIAL, 710 Nonplasmatic autosomal recessive thvmic potbelly, 27 Nerve malformations of middle car, 773 alymphoplasia or alymphocyt;sis, protuberant buttocks, 1 0 Nervous system (see parts, functions, and 522 proximal limb, 823 Section III, Tables XXIII and XXXVI) Nonrotation of midgut, 537 truncal, 302, 823 Ncugeborenen Hypoglykiimic, 512 Nontumorous primary aldosteronism, 484 OBESITY, HYPERTIIFRMIA, OLIGO• Neural hearing loss and hereditary atopic NOONAN SYNDROME, 720 MENORRHEA AND PAROTID dermatitis, 245 'lORRIE DISEASL, 721 SWELLING, 730 Neurenteric cyst of spinal cord, 894 Nose (also see Nasal parts, tip of nose, and Obesity with onset in infancy, 41, 533 Neurenterischc Ri.ickenmarkszysten, 894 Section III, Table XXVI) Obstipation, 192 Neurodegcnerativc disease, 643 bifid at birth, 506 as neonate, 193,531 NEUROECTODERMAL PIGMENTED broad, 162,164,166,724 OBSTRUCTION WITHIN RIGHT VEN• TUMOR, 711 calcified cartilage of, 263 TRICLE OR ITS OUT!' LOW Neuroepithclioma adenoids, 235 cylindrical structure, 234, 1001 TRACT, 731 NEUROFIBROMATOSIS, 712 defect of, 726, 821, 825 Occipital bone Neurogenic flaccid ptosis, 834 duplication of bony structure of, 725 bossing of, 160, 185,227,401,603, Neurologic defect unspecified, general, 135, flat, 9, 16, 105,431,724,883 900 187,578,777,782,961,978,992 hemangioma of, 386 flattened, 171,227 Neurologic dysfunction (see parts of body and large, 881 midline mass of, 343 Section III, Tables XXIII and XXXVI) long, 1001 presence of only basal portion of, 52 acute attacks of, 203, 820, 822 midline cleft, 635, 943 prominent shelf of, 777 progressive, 2, 103,126,398,406,519, midline nasal groove, 635 small, 227 547, 598,671, 697, 850, 894, 921 short, 1,16, 161, 162,876, 883 Occipito-facial-cervico-thoracic-abdomino- Neuroma acllstico bilateral, 12 small, 16,223,242,281,389,722,738, digital dysplasia, 900 Neuromes auditifs bilateraux, 12 825, 999 Ochronosis, 37 NEURONAL CEROID-LIPOFUSCINOSES, small cartilage of, 738 Ochronotic arthritis, 37 713 small nasal bones, 261 OCULAR AND FACIAL ANOMALIES Neuronal storage disease with curvilinear soft cartilage of, 409 WITH PROTEINURIA AND bodies, 713 thin (narrow), 189, 737,738, 997 DEAFNESS, 732 Neuropathy two separate, 725 Ocular anterior chamber peripheral, 7,671 NOSE AND NASAL SEPTUM DEFECTS, deep, 637, 638 sensory, peripheral, 93, 143, 265, 270, 722 dysplasia of, 84, 439 398, 810, 820 NOSE, ANTERIOR ATRESIA, 723 exudate of, 140 NEUTROPENIA, CYCLIC, 714 NOSE, BIFID, 724 glaucoma of, 57,101,139, 182,206, Nevi flammei, 715 NOSE, DUPLICATION, 725 261,384, 387,414,474, 479,553, Nevi, linear sebaceous, 593 Nose, ear, digital anomalies, gingival fibro- 583,591,638,663,712, 736,737, Nevoid basal cell carcinoma syndrome, l 01 matosis, and hepatosplenomegaly, 409 872 NEVUS FLAMMEUS, 715 NOSF, GLIOMA, 726 incomplete cleavage of angle, 140 Nevus fuscocaeruleus maxillofacialis, 716 NOSE, POSTERIOR ATRESIA, 727 shallow, 205,721,994 NEVUS OF OTA, 716 Nose, red skin and papules on, 444 underdeveloped filtration angle, 732 Nevus sebaceous of Jadassohn, 593 NOSE, TRANSVERSE GROOVE unspecified defect of, 637 Nevus telangicctatica, 715 (MARKER), 728 OCULAR COLOBOMAS, 733 Nevus varicosus ostcohypcrtrophicus, 55 Nostril OCULAR DRUSEN, 734 New neurocutaneous syndrome, 593 antevertcd, 16, 162, 190,227,261, 395, Ocular hypertelorism (see Section Ill, Table Nez bifide, 725 401,603,891,999 XXIV) Nez de dogue, 724 narrow, 223, 7 37 Ocular hypotelorism, 163,166, 168,231, Nez latCrale, 824 single, 158, 168,634 355, 473, 634 Nicht-kctotische Form der Hyperglyziniimie, small, 121 Ocular lymphangioma, 765 492 unilateral stenosis or narrowness of, Ocular melanocytosis, 640 Nicotinamide adenine dinucleotide and oxi- 723 Ocular motor apraxia, congenital, 191 doreductase, 568 Notch or cleavage of caruncle, 130 Ocular muscular dystrophy, 692 NIEMANN-PICK DISEASE, 717 Nougaret night blindness, 719 Ocular myopathy, 752 Niemann-Pickschc Krankheit, 717 Nuclear cataract, 132 Ocular nerve dysfunction, external, 1, 702, Nightblindness Nuclear facial palsy, 377 712, 744,745,750,779 nyctalopia, 270,578, 718, 719, 740, Nuclear hypoplasia congenital (6th and 7th Ocular retraction syndrome, 889 810,869,925,983 cranial nerves), 376 OCULO-AURICULO-VERTEBRAL progressive, 449 NUCLEOSIDE-PHOSPHORYLASE DE- DYSPLASIA, 735 stationary from birth, 399 FICIENCY, 729 OCULO-CEREBRO-RENAL SYNDROME, NIGHTBLINDNESS, STATIONARY, 719 Nuidudui, 886 736 Nipples (sec Mammary gland) Nukleosidphosphorylase-Mangel, 729 Oculocraniodental syndrome, 229 neuromuscular disease Noack syndrome, 13 Oculo-cranio-somatic fibers, 752 Nodular macroglossia, 618 Nyctalopia, 718 with ragged-red Nodular myolysis, 360 Nyssen and van Bogaert syndrome, 759 Oculocutaneous pigmentation syndrome, Nonchromaffin paragangliomata of middle Nystagmus (also see Section III, Table XXIV) 716 ear, 145 at birth or onset in childhood, 963 Oculodentodigital dysplasia, 737 Noncongenital isola ted lactase deficiency coarse; 413 OCULO-DENTO-OSSEOUS DYSPLASIA, (insufficiency), 567 horizontal, 147,413, 755, 986 737 jerky, 413 Oculomandibulodyscephaly, 7 38 "Noncorrectable'' extrahepatic biliary atresia, lateral, 147,413,755,986 OCULO-MANDIBULO-F ACJA L SYN• 110 rotatory, 803, 963 DROME, 738 Index 1167 Oculomotor nerve paralysis, 779 Onicodistrofia, pulgares trifahingicos, Optic nerve glioma, 763 Oculopharyngeal muscular dystrophy, 692 orejas recortadas y perida de Ja OPTIC NERVE HYPOPLASIA, 758 Oculopharyngcal myopathy, 692 audiciOn neurosensorial, 262 Optic nerve paralysis, 779 Oculopupillary syndrome, 475 Onychodysplasie, triphalangic des pouces et OPTICO-COCHLEO-DENTATE DE- Oculosympathetic syndrome, 475 des gros orteils, retard mental, Cpilep• GENERATION, 759 ODONTODYSPLASIA, 739 -sie et surdite de perception, 262 Opticus-atrophie in Kombination mit Taub• Odontogencsis imperfecta, 739 Onychodystrophie, dreigliedrige Daumen heit, 253 Odontogenic dysplasia, 739 und Zehen, geistige Retardierung, Oral anticoagulant embryopathy, 389 oedeme angioneurotique hereditairc, 54 KrampHinfalle, angebornene hmen• Oral cavity (also see parts and Section III, Oesophagusatresie, 364 olmchwcrh6rigkei t, 262 Table XXVII) Oesophagusatresie mit tracheo-oesophagealer Onychodystrophy, triphalangeal thumbs, and chewing difficulty, 390, 749 fistel, 365 halluces, mental retardation, seizures, closed by band or septum, 28, 181 Ocsophagusdivertikel, 36 7 and congenital sensorineural deafness, elevated floor, 618,760 Oesophagusstenose, 369 262 feeling of fullness, 760 OFD I syndrome, 770 Onycholysis, hypohidrosis and enamel hypo- inability to move jaw, 749 OFD II syndrome, 771 calcification, 45 progressive gangrenous lesions, 6 Offener Ductus arteriosus, 800 Onychoosteodysplasia, 704 ORAL DERMOIDS, 760 Oftalmoplejfa est:itica familiar, 751 Opalescent dentin, 279 Oral mucosa Oftalmoplcjfa cxterna y miopfa, 750 Ophiasis, 38 blistering, 609 Oftalmoplcjfa progresiva, 752 Ophtalmoplegie avec ptosis et miosis, 753 dry, 823 Oftalmoplcjfa total con ptosis y miosis, 753 OphtalmoplCgie externe avec myopic, 750 hyperkeratotic papillomas, 412 OGUCHI DISEASE, 740 OphtalmoplCgie familiale, 751 hyperplastic mucous glands in, Ill Oguchi disease types 1, 2A, and 2B, 740 OphtalmoplCgie progressive, 752 leukoplakia of, 789 Ohr, kleincs mit umgeschlagener Helix, 331 Ophthalmoarthropathy, 90 neuroma, 352 Ohr, promincntc Anthelix, 330 OPHTHALMO-MANDIBULO-MELIC patches ofhyperpigmentation in, 37, Ohrgrii.bchen, 329 DYSPLASIA, 749 535 Ohrliippenchen-Fistel, 322 OPHTHALMOPLEGIA EXTERNA AND soft, white, hyperplastic and folded onto Okuliire Drusen, 734 MYOPIA, 750 itself, 681 Okuliire Kolobome, 733 Ophthalmoplegia externa, complete or in• stomatitis, 15,443,494,944 Okuliirer Albinismus, 32 complete, 751 thickened palatal mucosa, 593 Okuloaurikulovertebrale Dysplasie, 735 OPHTHALMOPLEGIA, FAMILIAL STATIC, ulcerated, 143 Okuol-dento-ossiires Dysplasic, 737 751 white shaggy plaque on, 538 Okulokutaner Albinismus - gclbe mutante, Ophthalmoplegia plus, 752 ORBITAL AND PERIORBITAL DERMOID 36 OPHTHALMOPLEGIA, PROGRESSIVE CYSTS, 761 Okulomandibulofazialen Syndrom, 738 EXTERNAL, 752 ORBITAL CEPHALOCELES, 762 Okulopharyngcale Form der Muskcldystrophie, Ophthalmoplegia totalis, 751 ORBITAL GLIOMA, 763 692 OPHTHALMOPLEGIA TOTALIS WITH ORBITAL HEMANGIOMA, 764 Okulozerebrorcnales Syndrom, 736 PTOSIS AND MIOSIS, 753 Orbital hydrencephalocele, 762 Olfaction loss, congenital, 70 Opisthotonus, 340,603 ORBITAL LYMPHANGIOMA, 765 Oligophrenia, cochlear deafness and myopia, Opitz-Frias syndrome, 401 Orbital tumor, (also see Periorbital tumor), 251 OPITZ-KAVEGGIA FG SYNDROME, 754 565,591,762 0 LIGOPHRENIA, EPILEPSY AND Opitz trigonocephaly syndrome, 121 Orbitale und periorbitale Dermoidzysten, ICHTHYOSIS SYNDROME, 741 Optic atrophy and pigmentary stippling, 43 761 Oligophrenia, gingival fibromatosis, depig• OPTIC ATROPHY, INFANTILE HEREDO- Orbitale Zephalozele, 762 mentation, microphthalmia, and FAMILIAL, 755 Orbitales Lymphangiom, 765 athetosis, 413 Optic atrophy, juvenile diabetes and deaf· Oreille de Mozart, 328 OLIVOPONTOCEREBELLAR ATROPHY, ness, 550 Oreille en cupule, 314 DOMINANT MENZEL TYPE, 742 Optic atrophy, nerve deafness and distal Oreilles allongees en rotation postt~rieure, OLIVOPONTOCEREBELLAR ATROPHY, neurogenic amyotrophy, 268 325 DOMINANT SCHUT-HAYMAKER Optic disk (also see Optic nerve) Oreilles flasques, 326 TYPE, 743 atrophy of, 389,414, 579, 755 Oreja colgante, 326 OLIVOPONTOCEREBELLAR ATROPHY, cleft in, 121,620 Oreja de Mozart (Marcador), 328 DOMINANT WITH OPHTHALMO• deep physiologic cup, 414, 733, 758 Oreja en copa, 314 PLEGIA, 744 edema of, 188, 230,676, 763, 764 Oreja implantada baja, 327 Olivopontocerebellar atrophy, 742, 743, 744, elevated or flat, 579 Oreja pequefia con helix doblada, 331 745, 746, 747 misshapen or mottled, 738 Orejas largas, estrechas y con rotaciOn OLIVOPONTOCEREBELLAR ATROPHY, pallor of, 41,253,480,579,758, 865 posterior, 325 DOMINANT WITH RETINAL DE• pallor of, bilateral, 755 Orengua, 886 GENERATION, 745 pallor of, temporal, 755 Organ of Corti, defect of, 315,982 OLIVOPONTOCEREBELLAR ATROPHY, pallor of, waxy, 869, 983 Organic brain syndrome, 203, 820, 822 LATE-QNSET, 746 pigmented nevus of, 639 Origen anormal de Ia arteria vertebral, 527 OLIVOPONTOCEREBELLAR ATROPHY, pit in, 733, 756 Origen a.normal de las coronarias en Ia RECESSIVE FICKLER-WINKLER tilted, 757 arteria pulmonar, 64 TYPE, 747 Optic disk fossae, 756 Origcn comUn del tronco braquiocef Origin of a pulmonary artery from the ipsi· OSTEOPATHIA STRIATA, 778 176,177,178,179,180,181,182, lateral (to aortic arch) ductus Osteopathic striee, 778 185,220, 225,229, 230,242, 261, arteriosus, 768 Osteopatla estrida, 778 293, 329,337,375, 380, 381, 382, Origin of both great vessels from right ven• Osteopetrosa generalisata, 780 401,451,470,505,506,544,557, tricle with posterior ventricular Ostt'iopt'itrose ii manifestation precoce, 570,578,627,629,634,635,662, septal defect, 298 779 664, 727' 737' 769, 770, 711' 786, Origin of both great vessels from right ven• Osteopt'itrose a manifestation tardive, 780 818,874,883,897,952,953 tricle with subpulmonic ventricular OSTEOPETROSIS, DOMINANT, 779 cysts at junction with maxilla and pre- septal defect, 297 Osteopetrosis precoz, 779 maxilla, 59 ORIGIN OF LEFT PULMONARY ARTERY OSTEOPETROSIS, RECESSIVE, 780 deep broad furrow, 121,953 FROM RIGHT PULMONARY Osteopetrosis tardia, 780 defect of, 28, 88, 727 ARTERY, 766 Osteopetrosis with late manifestation, 779 fissured, 283 Origin of one pulmonary artery from as• Osteopoecilia, 781 flat, 121, 163,226 cending aorta, anterior or posterior, OSTEOPOIKILOSIS, 781 highly arched, 22,118,119,121,139, right or left, 767 OSTEOPOROSIS, JUVENILE IDIO- 157,163,166,171,182,185,223, ORIGIN OF PULMONARY ARTERY PATHIC, 782 227, 229, 261, 381' 394, 412, 413, FROM ASCENDING AORTA, 767 OSTEOPOROSIS-PSEUDOGLIOMA 627,629,630,667,696,720,732, ORIGIN OF PULMONARY ARTERY FROM SYNDROME, 783 735, 754,771, 823,977 DUCTUS ARTERIOSUS, 768 Osteoporosis with ocular pseudoglioma, lobed bony swelling of, 536, 959 Origine anormale de l'artere vertebrate, 527 783 narrow, 160,163, 171,172,227,242, Origine anormale des coronaires naissant de Osteopsathyrosis idiopathica, 777 720, 846, 977 l'art€:re pulmonaire, 64 Osteosclerosis fragilis generalisata, 780 partial median cleft of, 791 Origine commune du tronc brachio• Osteosis eburnisans monomelica, 641 submucous cleft of, 97, 180,184 cephalique et de l'artere carotide Ostium prim urn type atrial septal defect, wide, 163 gauche, 200 persistent ostium primum, 347 Palate, soft Origine contra-laterale de l'art€:re sous• Ostium secundum, 96 brown to brownish-red macules on, 955 clavii:re, 63 Otas Navus, 716 cleft of, 176,178,180,181,182,183, Origine de l'art€:re pulmonaire gauche dans Otitis media, 22, 27,145,206, 263, 285, 230, 293, 634 l'art€:re pulmonaire droite, 766 318,370,510,524,530,644,672, fistula at junction with pharynx in Ornithine transcarbamylase deficiency, 485 706, 729,786 anterior pillars, 790 Ornithinemia, 485 Oto-dentales Syndrom, 784 fistula in, 24 7 Ornithuria with retinal degeneration, 449 OTO-OCULO-MUSCULO-SKELETAL weakness of, 376 ORO-CRANIO-DIGITAL SYNDROME, SYNDROME, 785 Palate enlargement, 959 769 OTO-PALATO-DIGITAL SYNDROME, PALATE FISTULA (MARKER), 790 Orodigitofacial dysostosis, 770 786 Palatoschisis, 180 ORO-FACIO-DIGITAL SYNDROME I, Otocephaly, 28 Pallister Syndrom, 981 770 OTODENTAL DYSPLASIA, 784 PALLISTER-W SYNDROME, 791 ORO-FACIO-DIGITAL SYNDROME II, Otodental syndrome, 784 Pallor, 51, 403, 513, 886, 939 771 Otoesclerosis, 787 Palmar fibromatosis, 301 Orokraniodigitales Syndrom, 769 Otomandibular dysostosis, 457 PALMO-PLANTAR ERYTHEMA, 792 OROTICACIDURIA, 772 OTOSCLEROSIS, 787 Paln1ure laryngee, 574 Osseo-dentine Dysplasie, 280 Oval shape of calvaria, 85 Palpebral fissure (also see Section III, Osseous syndactyly, 14, 22, 874, 923 Ovarian dysgenesis, familial, 436 Table XXIV) OSSICLE AND MIDDLE EAR MALFOR- Ovary long, 371 MATIONS, 773 adenocarcinoma of, 101 narrow, 140, 155, 160, 168, 379, 395, Osteitis condensans, generalisata, 781 bilateral streak, 436,437 401 Osteoarthropathy, idiopathic hypertrophic, cysts, large follicular, 391 narrows in adduction, 889 788 cyst of, 412, 587 short, 155, 166, 299,371,632 Osteochalasia desmalis familiaris, 776 large, 903 unilaterally low-placed, 457 Osteochondrite dissequante, 774 ovotestis, 971 widens in abduction, 889 OSTEOCHONDRITIS DISSECANS, 774 small atrophic, 529 Pancreas Osteochondroma of the distal femoral streak gonad with hilar cells, 173 annular, 62, 300 epiphysis, 311 streak gonad with mesonephric rem- cysts, multiple, 605,662, 859, 884 Osteodermatopoikilosis, 781 nants, 173 cyst, single, 884 Osteodisplasia auricular, 98 tumor of, 535 hypofunction of islet cells, 702 Osteodisplastia, 775 unilateral streak, 173 large, 104 Osteodysplasia enostotica, 781 unspecified defect of ovary, 860 inflammation of, 62,489,532 OSTEODYSPLASTY, 775 insufficiency, 237 Osteodystrophic, 830 Pancreatic fibrosis, 237 OSTEOECT ASIA, 776 Pancreatic hypoplasia, bone marrow dys• Osteoectasia with macrocranium (with hyper- function and metaphyseal dysplasia, phosphatasia), 776 Pabell6n de Ia oreja ect6pico, 316 885 OSTEOGENESIS IMPERFECT A, 777 PACHYDERMOPERIOSTOSIS, 788 PANCREATITIS, HEREDITARY, 793 Osteogenesis imperfecta congenita, 777 PACHYONYCHIA CONGENITA, 789 Panhypopituitarismus, 303 Osteogenesis imperfecta tarda, 777 Pachyonychia congenita types I, II, and Pankreas annulare, 62 Ostcoktasie, 776 III, 789 Pankreasdysplasie, Knochenmarksdysfunktion Osteolisis carpo-tarsal, 128 Pain, indifference to, 307, 450 und metaphysiire Dysplasie, 885 Osteolisis carpo-tarsal recesiva, 129 Paladar hendido, 180 Papilas linguales pigmentadas (Marcador), Osteolyse carpo-tarsienne, 128 Paladar hendido, micrognatia y glosoptosis, 955 Osteolyse carpo-tarsienne (rt'icessive), 182 Papilles linguales pigment6cs, 955 129 Palate, hard {also see Section III, Tables XII, Papilloma of choroid plexus, 188 Osteolysis and proteinuria, 128 XIII, and XIV) Papilloma-Leige and Psaume syndrome, 770 Osteopathia condensans disseminata, 781 bilateral cleft of, 875 Papillon-Lefevre syndrome, 494 Osteopathia hyperostotica sclerotisans cleft of, 90, 118, 122, 138, 157, 158, Paquidermoperiostosis, 788 multiplex infantilis, 290 159,160,164,165,166,168,172, Paquioniquia congenita, 789 Index 1169 Parachute mitral valve, 582 Patella Pcrsistencia de Ia vena cava superior Paradione syndrome, 388 dislocation of, 941 izquicrda comunicada con la auricula Panilisis congenita del sex to par, 889 lateral dislocation of, 308, 704 derecha por media del seno coronario, Panilisis facial congenita, 377 small, 157,560,649, 704 807 Panilisis facial de comienzo tardio, 378 PATENT DUCTUS ARTERIOSUS, 800 Persistencia del canal arterial, 800 Panilisis periOdica hipercaliemica, 794 Pecha excavado, 802 Persistencia del eonducto tirogloso, 945 Parilisis periOdica hipocaliemica, 795 Pcctum recurvatum, 802 Persistencia del tronco arterioso, 972 Paralysie de la sixiCme paire, 889 PECTUS CARINA TUM, 80I Persistent common atrioventricular canal, Paralysie faciale 3. debut tardif, 378 Pectus carina tum, 22, 85, 155, 190,257, 347 Paralysie facial congCnitalc, 377 306, 394,474,629,630,678, 777, Persistent ductus arteriosus, 800 Paralysie periodique hypcrkaliemique, 794 80I Persistent fetal fibrovascular sheath of lens, Paralysic pCriodique hypokaliCmique, 795 PECTUS EXCA V ATUM, 802 994 PARALYSIS, HYPERKALEMIC PERIODIC, Pectus excavatum, 1, 85, 118, 190, 394, 412, Persistent frontonasal process, 722 794 474, 554, 572,576, 629, 630, 676, PERSISTENT LEFT SUPERIOR VENA PARALYSIS, HYPOKALEMIC PERIODIC, 754,777,802 CAVA CONNECTED TO CORO• 795 Pegged or missing maxillary Ia teral incisor NARY SINUS, 807 Paralysis of sixth nerve, congenital, 889 teeth and congenitally missing pre• Persistent left superior vena cava connecting to right atrium via coronary sinus, Paramedian pits of lower lip (isolated trait), molar~,934 807 596 PELJZAEUS-MERZBACHER SYNDROME, Persistent truncus arteriosus types I, II, III, Paramolar, 936 803 and IV, 972 PARAMYOTONIA CONGENJTA, 796 Pelvis Paranasal sinus defect of, I 71, 189, 685 Persistent tunica vasculosa lentis, 994 hypoplasia of, 225, 635, 735 narrow, 122,140,157 Pcrsistcnz der linken Vena cava superior mit infection of, 27,285,521,606,706,726, small, 160, 557 Verbindung zum rechten Vorhof 944 tilted, 882 i.iber den Sinus coronarius, 807 PAR AN ASAL SINUSES, ABSENT, 797 Pend red syndrome, 249 Persistieren des primitiven Glask6rpers, 994 Parrnasal sinuses, panagenesis, 797 Penis Persistierende Pupillarmembran, 845 Paranoia, 478 chordee, 401,518 Persistierender Ductus thyreoglossus, 945 Paraparesis, spastic, 995 clitoris-like, 50 Persistierendes Milchgebiss, 933 Paraplegia, 678 fibrous contracture of, 301 Peter anomaly, 439 Paraplegia with sudden onset, 186 glans penis deformed downward, 401, Petit mal automatism, 135 Parasternal hernia, 289 5I8 Petit mal-grand mal epilepsy, 135 PARASTREMMATIC DYSPLASIA, 798 partially defident foreskin on ventral Petit mal lapse ("absence"), 135 Parastremmatischer Zwerg\vuchs, 798 aspect of, 518 Pctrous pyramid cholesteatoma, ISO Parathyroid PENTOSURIA (MARKER), 804 Pcutz-Jeghers syndrome, 535 hypofunction of, 70, 5 IS Perdida de ]a audici6n a las frequencias Pfeiffer syndrome, 14 large, 391 bajas dominante, 256 Phalangeal hypoplasia and gingival fibro- tumor of, 350 Peremans disease, 990 matosis, 409 Parchment right ventricle, 979 Perforaciones naturales de los pabellones Pharyngeal cyst or fistula,j17 Paresthesia, 48,810,820,822,995 auriculares (Marcador), 322 Pharyngeal muscular dystrophy, 692 Parietal bone Perforation du pavillon de l'oreille, 322 Pharyngeal pouch syndrome, 943 bossing bilateral, 554 PERICARDIUM AGENESIS, 805 Pharyngoesophageal diverticulum, 367 lateral ridging of, 401 Peridens, 936 Phenylalanine hydroxylase deficiency, 808 midline mass of, 343 Perikard-Agenesie, 805 PHENYLKETONURIA, 808 Parodontopathia acroectodermalis, 494 Perineal anus, 69 PHENYLTHIOCARBAMIDE TASTING Parotidite ponctuee, 799 Periodic neutropenia, 714 (MARKER), 809 Parotiditis punctata, 799 Periodic paralysis, hyperpotassemic, 794 Phcnylthiurea sensitivity, 809 Parotitis associated with SjOgren syndrome, Periodic paralysis, hypopotassemic, 795 Pheochromocytoma, medullary thyroid 799 Periodontoclasia and hyperkeratosis palmo- carcinoma and multiple neuroma syn• Parotitis of childhood, chronic recurrent, 799 plantaris, 494 drome, 352 Parotitis punctata, 799 PERIODONTOSIS, JUVENILE, 806 Phocomelia with congenital hypoplastic PAROTITIS, PUNCTATE, 799 Peripheral dysostosis, nasal hypoplasia and thrombocytopenia, 941 mental retardation syndrome (PNM), Photomyoclonie, diabCte sucre, surdit6 de Partial absence of optic nerve, 758 I6 perception, nCphropathie, et en• Partial agenesis of corpus callosum, 220 Peripheral iodotyrosine deiodinase deficiency, cCphalopathie, 255 Partial anomalous pulmonary venous connec- 543 Photomyoklonus, Diabetes mellitus, Inncn• tion, 841 Periphere Pulmonalstenose, Kombinierte ohr-SchwerhOrigkeit, Nephropathie, Partial anomalous pulmonary venous return, Sclnverh6rigkeit, Brachytcle• zerebrale Dysfunktion, 255 879 phalangie, Knorpelverkalkungen, Pl!YTANIC ACID STORAGE DISEASE, venous return, 841 Partial anomalous 263 8IO chromosome 4 deletion syndrome, Partial Peromelia and micrognathia, 451 Phytans Pigmentation congenitale du di~que(optiquc), PORPHYRIA, VARIEGATE, 822 Primary noninflammatory lymphedema, 615 639 Porphyrie aigi.ie intermittente, 820 Proboscis lateral, 824 Pigmented epitheliomatosi~,1005 Porphyrie erthropofetique congenitale, 821 PROBOSCIS LATERA LIS, 824 Pigmented lipid histiocyto~is,443 Portal vein Procollagen peptidase deficiency, 338 Pigmentierter neuroektodermaler Tumor, 711 atresia, 468 Progenia, 626 Pitiriasis rubra pilaris, 811 cavernous transformation, 468 PROGERIA, 825 Pits of upper lip, 596 preduodenal, 468, 606 Progeria i ddmt tardif, 998 Pityriasis pilaris, 811 Portal-vein atresia, 468 Progeria aultorum, 998 PITYRIASIS RUBRA PILAR IS, 8I I Port-wine stain, 715 Progerie, 825 Placenta circumvallata, J 87 Postaxial polydactyly, types A and B, 814 Progeronanism, 825 Plagiocephaly, 230 Postductal coarctation, 73 Prognathisme, 626 PLASMA-ASSOCIATED DEFECT OF Posterior embryotoxon, 439 Prognatismo mandibular, 626 PHAGOCYTOSIS, 8I2 Posterior marginal dysplasia of cornea, 439 Progonoma, 711 Plasma cholinesterase, atypical, 152 Posterior marginalis dy~plasia,439 Progressive arthroophthalmopathy, 90 Pla~mathromboplastin component (PTC) Posterior nasal atresia, 727 Progressive chorea, 4 78 deficiency, 462 Posterolateral diaphragmatic hernia, 289 Progressive chorioretinal degeneration, 925 Platy basic, l 03 Postoperative psychologic disturbance, 152 Progressive choroidal atrophy, 925 Pleoconial myopathy, 694 Posture, stooped, liS Progressive choroideremia, 925 Plicatura o arrollamiento lingual (Marcador), Posturing Progressive cone-rod degeneration, 201 95I dystonic, 421 Progressive diaphyseal dysplasia, 290 Plicature r6tinicnnc, 867 progressive dystonic, 266 Progressive extraocular muscular dystrophy, Pliegue retineano, 867 unusual, 266 752 PNM, 16 Potassium-losing nephropathy with low Progressive high-tone nerve loss, 269 Pol-und Kapscl-Kataraktc, 133 aldosterone, 590 Progressive lenticular degeneration, 469 Poland syndactyly, 813 Potbelly, 27 Progressive muscular dystrophy of child- POLAND SYNDROME, 813 Potter syndrome, 856 hood, 689 Polar and capsular cataracts, 132 Pouce en griffe, 175 Progressive ophthalmoplegia, 752 Polidactilia, 814 PPSH, 831 Progressive septic granulomatous di~ease, Polimastia, 815 Prader-Labhart-Willi syndrome, 823 443 Poliposis del colon, 535 PRADER-WILLI SYNDROME, 823 Prolaps des Kchlkopfdcckcls, 573 Polisindactilia, 817 Prolapse of laryngeal ventricle, 573 Preauricular appendages and deafness, 247 Polisplenia, 816 Prolapso de la v PSEUDOHYPOALDOSTERONISM, 829 diminished femoral pulse when supra- Quere Nasenfurche, 728 PSEUDOHYPOPARATHYROIDISM, 830 clavicular mass is compressed, 74 Quiste del cotedoco, 149 Pseudohypoparathyroidism, Type 1 intermittent tachycardia, 332 Quiste dermoide o teratoma de Ia cabeza y (PHP-1), 830 paroxysmal fast radial pulse, 1002 cuello, 283 Pseudohypoparathyroidism, Type 2 tachycardia, 51,332,424,697, 820, 822, Quiste hepritico solitario, 465 (PHP-2), 830 922 Quiste neurenterico de Ia medula espinal, Pscudohypophosphatasia, 516 weak diminished quality to radial, 546 894 Pscudometatropic dwarfism, 557 PUNCTA AND CANALICULI, SUPER- Quistes dermoides orales, 760 Pseudopolydystrophy, 673 NUMERARY, 844 Quistes dermoidcs orbitarios y periorbitarios, Pseudoprognathism, 14,112,161,162,178, Punctate epiphyseal dysplasia, 153 761 352, 941 Punta de Darwin auricular (Marcador), 241 Quistes esplenicos, 240 Pseudo-pseudohypoparathyroidism, 830 Pupil Quistes larlngeos, 572 PSEUDO VAGINAL PERINEOSCROTAL abnormalities, 309 Quistes mesentericos, 645 HYPOSPADIAS, 831 asymmetric, 583 Quistes nasofar{ngeos, 706 PSEUDOXANTHOMA ELASTICUM, 832 constricted, 475,637, 753 Quistes o senos de las hendiduras PSORIASIS VULGARIS, 833 dilation of, 57,721 branq uiales, 117 Psychologic disturbance, postoperative, 152 eccentric, 242 Psychomotor retardation (sec Section III, imperforate pupillary membrane, 737, Table XXIII) 845 Psychosis, 498 increased sensitivity of pupil to R acute or chronic, 820, 822 methacholine as adult, 163 intermittent, 453 inequality greater than 20%, 58 Rachitisme vitamino dependant, 873 PtCrygium poplite, 818 irregularly shaped, 309,583 Racial lactase deficiency, 567 Pterygoid-levator synkinesis, 548 malposition of, 583,593, 750 Radial aplasia, 853 Ptosis and miosis with ophthalmoplegia sluggish, 344,751 RADIAL DEFECTS, 853 totalis, 753 sunsetting, 302,481 Radial dysplasia, 853 PTOSIS, CONGENITAL, 834 tissue remnants in pupillary space, Radial hemimelia, 853 Ptosis with superior rectus weakness, 834 121, 140,732,845 Radiation embryopathy, 383 Pupillary light reflex Radiation of biologic mother during Pulgar en gancho, 175 red, 32, 34, 35, 36 patient's prenatal life, 383 Pulmonalinsuffizienz, 838 white, 866, 870, 994 Radiation teratogenesis, 383 Pulmonalklappen-Atresie, 837 PUPILLARY MEMBRANE PERSISTENCE, Radicular dentin dysplasia, 278 Pulmonalstenosc, 839 845 Radius PULMONARY ARTERY COARCTATION, Pupillary reflexes, 43,721,865 anterior dislocation of radial head, 225 835 Pure testicular dysgenesis, 437 bowing of, 19, 20,646,648,685,775, Pulmonary artery stenosis, 835 Pure tiC syndrome, 644 791 Pulmonary artery stenosis or atresia, 182, Purpura thrombocytopenique avec histio• defect of, 16,455,853,981,987 384, 632 cytose, 942 dislocation of, 98, 769, 786 Pulmonary atresia with hypoplastic right PUrpura trombocitopenica con histocitosis, dislocation of proximal radial head, 20 ventricle, 837 942 647 Pulmonary atresia with normal aortic root, dislocation of radial head, 121, Pustular psoriasis, 833 837 221,242,648, 1001 PXE, 832 Pulmonary branch stenosis, 835 PYKNODYSOSTOSIS, 846 partial absence of, 231 Pulmonary infundibular stenosis, 586, 720 PYLE DISEASE, 847 short, 19, 20, 166,646,769,853,875, Pulmonary regurgitation due to intrinsic ab- 923 normality of pulmonary valve, 838 Pyloric atresia, 910 PYLORIC STENOSIS, 848 Radikulllre Zahnverschmelzung, 928 Pulmonary valvar stenosis with intact ven• RADIOULNAR Pylorusstenose, 848 SYNOSTOSIS, 854 tricular septum, 839 Radius absent and tluombocytopenia, 941 Pyramidal signs, 344, 5 79 Pulmonary valvar stenosis with normal Radius defekte, 853 Pyridoxine dependency, 991 aortic root, 839 Rand-und Kern-Katarakte, 132 PYROGLUTAMIC ACIDEMIA, 849 PULMONARY VALVE ABSENT, 836 Rapid izoniazid (INH) inactivation, 7 Pyrroloporphyria, 820 PULMONARY VALVE ATRESIA, 837 Raquitismo vitamino D-dependiente, 873 Pyruvat-Dehydrogenase-Mangel, 851 Pulmonary vaive atresia with intact ven- Recessive carpal-tarsal osteolysis, 129 PYRUVATE CARBOXYLASE DE- tricular septum, 837 Recessive early-onset neural deafness, 270 FICIENCY WITH LACTIC ACIDEMIA, Pulmonary valve, bicuspid, 109 Recessive myopia and hearing loss, 251 850 PULMONARY VALVE INCOMPETENCE, Recessive optic atrophy, hearing loss and PYRUVATE DEHYDROGENASE DE• 838 juvenile diabetes, 550 FICIENCY, 851 PULMONARY VALVE STENOSIS, 839 Recessive osteopetrosis, 780 PYRUVATE KINASE DEFICIENCY, 852 Pulmonary valve, stenosis, 381, 384, 586, Recessive profound sensorineural deafness, Pyruvatkarboxylase-Mangel mit Laktat• 720 271 acidllmic, 850 PULMONARY VALVE, TETRACUSPID, Rechtsaortcnbogen, 77 Pyruvatkinasemangcl, 852 840 Rectal aganglionosis, 192 Pulmonary vascular sling, 766 Rectal atresia or stenosis, 193 PULMONARY VENOUS Rectal duplication, 194 CONNECTION, Q PARTIAL ANOMALOUS, 841 Recto perineal fistula, 69, 72 PULMONARY VENOUS CONNECTION, Quadricuspid aortic valve, 81 Rectum TOTAL ANOMALOUS, 842 Quadricuspid pulmonary valve, 840 empty on rectal exam, 192 PULPAL DYSPLASIA, 843 Queilitis glandular, 144 mass in, 194 Pulsating venous aneurysm of external ear, Queloide, 551 prolapse of, 535 313 Quemodcctoma del oido media, 145 prolapse, recurrent, 237 Pulse rate Queratocono, 552 Recurrent erosive corneal dystrophy, 214 absence of femoral, 73, 998 Queratopatia en bandas, 553 Recurrent facial nerve paralysis, 378, 999 bifid, carotid, 917 Queratosis palmar, leuconiquia y sordera, Red-green deutan series color blindness, 196 bounding radial, 466, 800 558 Red-green pro tan series color blindness, 197 bradycardia, 454, 805, 946 Queratosis palmoplantar y periodontoclasia, Red palms, 792 diminished femoral, 73, 998 494 Reduplication of stomach, 912 1172 Index Reflexes Respiratory infection decreased number of, 140 absence of deep tendon, 2, 139, 265, 307, bronchitis, 522,606, 986 dilatation of, 41, 189, 373, 868, 869, 628, 629, 693, 743, 746, 7SO, 7S9, bronchitis chronic, 706, 944 872, 92S, 983 810, 8SO, 89S, 924 bronchitis recurrent, 263 narrowing of, 449, 872 absence of primitive (Mora, root, step• bronchitis subacute, 706 pulled into fold, 867 ping), 139,628, 940 pneumonia, 27, 51,381, 384, 387,522, sludge phenomenon in, 47 decreased deep tendon, 49, 139, 143, 303, 577,714 tortuosity of, 163, 373, 872 307,486, S78, 671,686,689, 69S, pneumonia alba, 385 vascular changes of diabetes, 549 696, 736, 813, 89S pneumonia aspiration, 187, 365, 366, Retinal degeneration associated with grasp or sucking reflex retained into child• 367, 368, 369,471, 960 spinocerebellar ataxia, 745 hood, 413 pneumonia recurrent, 27, 363,754,879 RETINAL DYSPLASIA, 866 increased deep tendon, 275, 295, 413, pulmonary infection, 138, 470,611, 612 RETINAL FOLD, 867 492,499, SIS, S78, 671, 743, 7SS, recurrent, 120,237,333,525,680,895, Retinal macula (also see Section III, Table 7S9, 808, 924 967 XXIV) sucking absent or poor, 121, 139, 823 Respiratory system (see Section III, Table abnormal position of, 620 swallowing, absent or poor, 139,823 XXXI) atrophic degeneration of, 400, 776 Reflux ocsophagicn, 366 Respiratory tumor cherry red spot, 431, 433,434, 671, 717 Refractive error (also see Astigmatism, cyst of lung, 630 cystic degeneration of, 871 Hyperopia, Myopia) cystic areas in lung with air-fluid levels, degeneration of, 93, I 36,622,734, 745, major, 757 110 7S6, 869, 998 uncorrectable, 188 cysts throughout lung, 605, 859 edema of, 534 unspecified type, 963 Respiratory vasculature enlargement of, 745 Refsum disease, 810 increased, 79, 96,218,286, 297,298, exudative lesion, 622 Regional odontodysplasia, 739 347, S81, 66S, 800,842,968,989 focal hyperpigementation, 195,745 Regurgitation, 364, 365 decreased, 92, 581, 612, 731, 835, 837, pallor of, 745 of old food, 367,369 839, 938, 968, 969, 979 white plaques on, 734 unspecified, 363, 366, 368 prominent, 838, 972 RETINAL TELANGIECTASIA AND REIFENSTEIN SYNDROME, 8SS Retardation (see Section III, Table XXIII HYPOGAMMAGLOBULINEMIA, Reis-Bticklers corneal dystrophy, 215 for items listed below) 868 Reis-Biicklersche Hornhautdystrophie, delayed developmental milestones Retinal tumors 11S growth cysts, 479 Reissner membrane, defect of, 315 mental hamartoma, 975 Renal (see Kidney) motor grey mass in periphery, 872 RENAL AGENESIS, BILATERAL, 8S6 psychomotor pink tumor with many surface blood RENAL AGENESIS, UNILATERAL, 8S7 Reticular pigmented dermatosis, 703 vessels, 870 Renal and digital anomalies and deafness, Retina (also see Section III, Table XXIV) protuberant retina, 733 264 bilateral pigmented macular cleft, 621 pseudotumors, 721 Renal aplasia, unilateral, 857 blond retina in pigmented races, 32, 35 retinoblastoma, 167,995 Renal artery, occlusion of, 474 bone spicule pigmentation of, 43, 201 yellow-orange cystic lesion, 622 RENAL BICARBONATE REABSORPTJVE cleft, 242,733 Rctinale Dysplasie, 866 DEFECT, 8S8 coalescent cysts of Blessig, 871 R6tinitc pigmentaire, 869 RENAL DISEASE, POLYCYSTIC ADULT dark grey, 716 RETINITIS PIGMENTOSA, 869 TYPE, 8S9 degeneration of, 2, 41, 43, 70, 136, 189, Retinitis pigmentosa and congenital deaf- RENAL, GENITAL AND MIDDLE EAR 101,449,578, 67S, 713,810, 86S, mutism, 983 ANOMALIES, 860 983, 998 Retinitis pigmentosa-dysacusis syndrome, Renal glycosuria A and B, 861 depigmentation, 34, 35, 36,201,479, 983 RENAL GLYCOSURIA (MARKER), 861 sso, S78 Retinitis pigmentosa sine pigmenta, 869 Renal iminoglycinuria, 520 detached, 90, 182,266,338,474,479, RETINOBLASTOMA, 870 RENAL TUBULAR ACIDOSIS, 862 SS7, S83, 630,661, 67S, 721, 732, Retinopathy of prematurity, 872 RENAL TUBULAR ACIDOSIS AND SEN- 783, 866, 870, 872, 879 RETINOSCHISIS, 87 I SORINEURAL DEAFNESS, 863 fold in, 620,721,867,872 Retinosquisis, 871 Renal tubular bicarbonate-losing syndrome, hemorrhage of, 140, 622,763, 764, Retour veineux pulmonaire anormal total, 8S8 831, 872 RENAL TUBULAR SYNDROME, FANCONI, 842 hypcrpigmentation of, 479, 865, 869, Retrecissement du canal medullaire, 976 864 92S, 983 Renale Glucosurie, 861 Retrecissement mitral, 669 mixed defects of, 159 RETROLENTAL FIBROPLASIA, 872 Renate tubulare Azidose, 862 red-orange, 32 Renaler Bikarbonat-Resorptions-Defekt, 858 Retrolental fibroplasia, 620 retinoschisis, 479,871 Retrosternal diaphragmatic hernia, 289 Respiration (also see Breath Sounds, Respira- scalloped plaques, 449 tory, each part and Section III, Table Rezessiv erbliche Carpo-tarsalc Ostcolysc, scarring, 622, 872 119 XXXI) tapetoretinal degeneration, typical, 2, 70, airway obstruction, 74,283, 367,543, Rezessive SchalleitungsschwerhOrigkeit, 136, S78, 713,810, 86S, 869, 983, 171 94S, 947 998 Rezidivierende erosive Hornhautdystrophie, choking on feedings, 139, 401, 577 unilateral slate grey, 640 chronic lung disease, 237 velvety pigment, 449 114 defect of, unspecified, general, 628, 777 white dotdn, 399 Rhhump, 340 paradoxical respiration, 895 yellow flecks in, 400 Rheumatoid agglutinators (Raggs), 71 reduced pulmonary ventilation, 702, 760 yellow-white lesions in, 734 Rib, defect of, 121,157,735,941 use of accessory muscles of, 39 Retina-Aplasie, 865 Rib gap defects with micrognathia, 138 Respiratory failure, 39, 187 Retina-Falte, 867 RICKETS, VITAMIN D-DEPENDENT, Respiratory obstruction RETINAL APLASIA, 86S 873 caused by lipomas in neck, 601 Retinal blood vessels Rieger syndrome, 439 total, 572 angioid retinal streaks, 832 Riggs type nyctalopia, 719 Respiratory paralysis, 203, 820 artery spasm, 820, 822 Right aortic arch types I, II and III, 77 Index 1173 Right aortic arch with or without retro• close to midline, 901 SED, 898 esophageal anomalous subclavian defect of, 98, 455, 884 SED congcnita, 897 artery, 77 elevation of, 257,394,586,712,901, Seizures (see Section Ill, Table XXXVI) Right common carotid artery originating 967,986 focal, 188,851, 961, 975 from left innominate artery in cases round, 884 refractory to usual anticonvulsant medi• with a right-sided aortic arch, 200 small, 122, 185, 455, 884, 901 cation, 486,713,991 Right ventricular endocardial fibrosis fibro• Scapula elevata, 901 with onset during infancy, 434,492, clastosis, 349 SchalleitungsschwerhOrigkeit mit vor• 975 Right ventricular primary myocardial hyper• wiegendem Ausfall mittlerer with onset in childhood, 44, 118, 478, trophy with endocardial fibro• l.'requenzen, 267 713,915 elastosis, 349 Schallcitungsschwcrhi::irigkcit und de• with onset in neonatal period, 396,492, Right ventricular subendocardial fibro- formicrte, tiefsitzende Ohrcn, 254 514,991 clastosis, 349 Scheibe cochleosaccular degeneration of Seizures, adenoma sebaceum and mental Riley-Day syndrome, 307 inner ear, 315 retardation, 975 RING CONSTRICTIONS, 874 Schcidenatresie, 984 Selective anosmia, 70 RingfOrmige Strikturen, 874 Seheie syndrome, 675 Self-healing multiple squamous epithelioma, Ring-like corneal dystrophy, 215 SchilddrUscn-Dysgencsie, 946 359 ROBERTS SYNDROME, 875 Schistoglossia, 952 Self-mutilation, 422, 588 Robin anomaly, 182 Schizencephaly with head enlarge- Semicircular canals, defect of, 142, 249, Robinow-Silverman-Smith syndrome, 876 ment, 480 272, 315, 385,728,982 ROBINOW SYNDROME, 876 Schizophrenia, 229 Semilethale Form der Taubstummheit, Rod body myopathy, 696 Schlaffe Olumuschel, 326 243 Rod-cone dystrophy, 869 Schlichting syndrome, 213 Seminiferous tubule dysgenesis, 556 Rod monochromatism, 198 Schmelz-dentinhypoplasie mit Tetra- Senile nanism, 825 Rokitansky-Kiister-Hauser syndrome, 682 zyklinverfarbung, 341 Senile retinoschisis, autosomal recessive, Roman-Ward syndrome, 610 Schmelz-dentinverfarbung durch Erythro- 871 Romano-Ward syndrome, 610 blastosis Fetalis, 340 Sensation Rootless teeth, 278 Schneebedeckte Ziihne, 935 absence of, 48, 265, 270,693, 894, Rosenberg-Clmtorian syndrome, 268 Schnyder crystalline corneal dystrophy, 216 924 Rotaci6n intestinal incompleta, 537 Schrage Gesichtsspalte, 375 loss of temperature, 810 Rotation intestinale incomplete, 537 Schubert-Bornschein type nyctalopia, 719 moderate loss of position and pain, ROtelnembryopathie, 384 Schulter-Beckengiirtelform der Muskel- 743, 810 Round dystrophie, 691 Sensibilite gustative a Ia thio-uree, 809 calvaria, 281 Schusterbrust, 802 Sensorineural deafness and corneal dystrophy, face (moon), 114, 139, 163, 170, 447, Schwalbe line, prominent, 439 206 554, 557. 830, 900 Schwartz-Jampel syndrome, 155 Sensorineural deafness associated with dia• Rubella embryopathy, 384 Schwere Form des Transglucuronylase- betes, 246 Rubella malformation syndrome, 384 mangels, 961 Sensorineural deafness, profound, 271 Rubeole congenitale, 384 SCIMITAR SYNDROME, 879 Sensorineural deafness, short stature, Rubinstein-Taybi syndrome, 119 Sclera vitiligo, muscle wasting and Rud syndrome, 741 blue, 777 achalasia, 275 Rudimentary uterine horn, 684 dark pigmentation, 37, 716 Sensorineural hearing loss (also see Section Ruiter-Pompen-Wyers syndrome, 373 exposed, 733 III, Table XXV) Ruptured omphaloeele, 748 posterior staphyloma, 732 Sensorineural unilateral hearing loss, 274 Russell-Silver syndrome, 887 rupture of, 338 Sensory peripheral neuropathy, 93, 143, Rutherford syndrome, 408 scleral rims exposed, 539 265, 270, 398,810,820 unilateral focal pigmentation, 640 separation de J'artere sous-claviere et de Sclerocornea, 205 l'aorte, 546 SclCrose cerebrale a cellules globoldes, 415 Septum vaginal transversa, 985 Sclerose cen~brale-typeI, 803 sequestration d'un lobe pulmonaire, 612 SACROCOCCYGEAL TERATOMA, 877 Sclerose tubereusc, 975 Serum carnosinase deficiency, 126 Saethre-Chotzen syndrome, 14 SCLEROSTEOSIS, 880 Serum normal agglutinants (SNaggs), 71 Sakati syndrome, 13 Sclerotic bone disease, 290 17-Ketosteroid reductase deficiency Sakrococcygeal teratome, 877 Scoliosis (also see Section Ill, Table (some cases), 831 Salivary gland XXIX) 17-20-Desmolase-Mangel, 904 chronic drooling, 469, 754 progressive, 293 Severe infantile myopia, 699 decreased salivation, 378, 799 thoracolumbar, 644 Severe, recurrent, or persistent neonatal excessi_ve salivation, 364, 365 with onset in infancy, 153 and infantile hypoglycemia, familial, hypoplasia of, 664 Scrotal tongue, 956 512 parotid mass, 878 Scrotum Sex, external characteristics of opposite, swelling of parotid, 799 bifid, 50, 167,578,818,831,855,909 903 SALIVARY GLAND, MIXED TUMOR,878 hooded, 1, 401 Sexual ateleotic dwarfism, 447 Salivary gland virus infection, 381 hydrocele persistent, 529 Sexual development, precocious, 391, 887 Salmon patch, 715 inguinal mass in, 529 Sexual infantilism, 437,438,616,741, Sandhoff disease, 433 labioscrotal fold, incomplete fusion of, 977 Sanfilippo syndrome, 677 29,401 regressive with onset at puberty, 460 (SC) Pseudothalidomide syndrome, 875 labioscrotal fusion posterior, 173 Sexual maturation Scalp cylindroma types I and II, 235 prominent raphe, 168 altered, 908, 971 Scalp-skull and limbs, absence defect of, small, 105, 159,823 deficient pubertal, 70, 460, 556, 578, 459 unrugated, 438 785, 823, 825, 855, 903, 909, 977 Scaphocephaly, 230 (see also Section Ill, Seborrheic alopecia, 99 delayed, 302, 305, 44 7, 578, 823 Table XXIX) SECKEL SYNDROME, 881 eunuchoid habitus, 93, 438 Scapula Secondary or apparent aphakia, 84 female gender with virilization, 498, 902, abnormal rotation of, 901 Secuestraci6n dell6bulo pulmonar, 612 908,971 1174 Index Sexual maturation -Continued Sindrome cercbro-costo-mandibular, 138 Sindrome de lentigos mUltiples, 586 male gender with feminization, 971 Sindrome cerebro-hepato-rcnal, 139 Sindrome de Lesch-Nyhan, 588 male gender with mild virilization, 909 Sindrome cercbro-6culo-facio esqueiCtico, Sindrome de Liddle, 590 male habitus, premature development 140 Sindrome de lisencefalla, 603 of rna ture, 908 Sindrome cervico-6culo-acllstico, 142 Sindrome de malabsorci6n de Ia metionina, male, secondary gonadal atrophy in young, Sindrome cr:ineo-6culo-dental, 229 657 460 Sindrome cUbito-mamario tipo Pallister, 981 Slndrome de Marden-Walker, 629 poor, 437,438,616,741,977 Sindrome de Aarskog, 1 Sfndromc de Marfan, 630 sex, external characteristics of opposite, Sindrome de Aberfeld, ISS Sindrome de McDonough, 632 903 Sindrome de AlstrOm, 41 Sindrome de Meckel, 634 sexual development precocious, 391, 887 Sindrome de angio-osteohipertr6fico, 55 Sindrome de Menkes, 643 sexual infantilism, 437,438,616, 741, Sindrome de artrogriposis de Herrmann- Sindrome de Mohr, 771 977 Opitz, 470 Sindrome de Moynahan, 670 sexual infantilism, regressive with onset Sindrome de ausencia del radio y trombo- Sindrome de Naegeli, 703 at puberty, 460 citopcnia, 941 Sindrome de Nathalie, 785 sexual maturation altered, 908, 971 Sindrome de Bartter, 100 Sindrome de nevus a ceJulas basales, 101 virilization at puberty, 173 Sindrome de Basan, 102 Sindrome de nevus seb Slndrome oto-p Sordera y bocio, 249 Split notocord syndrome, 292 Stenosis of the common pulmonary vein, Sordera y dermatitis atOpica, 245 SPONDYLOCOSTAL DYSPLASIA, 896 204 Sordera y diabetes, 246 SPONDYLOEPIPHYSEAL DYSPLASIA Stenosis, subglottic, 919 Sordera y 6nicodistrofia, 252 CONGENITA, 897 Stenotic bicuspid aortic valve, 80 Sorsby syndrome, 621 SPONDYLOEPIPHYSEAL DYSPLASIA Sternum (also see pectus carinatum and Sotos syndrome, 137 TARDA, 898 excavatum) South African genetic porphyria, 822 Spondylokostale Dysplasie, 896 defect of, 182, 632 Spasm SPONDYLOMETAPHYSEAL CHONDRO• long xiphoid process of, 121 carpopedal, 515 DYSPLASIA, TYPE KOZLOWSKI, short, 121,160,242 infantile, 126, 135,713 899 STEROID W-HYDROXYSTEROID DE• Spastic diplegia, hereditary, 295 SPONDYLOTHORACIC DYSPLASIA, 900 HYDROGENASE DEFICIENCY, Spastic quadriplegia, 86, 154, 398, 743, Spondylothorakale Dysplasie, 900 909 SpongiOse Dystrophic der weissen Hirn- 759 STEROID !!~-HYDROXYLASEDE• Spasticity substanz, 115 FICIENCY, 902 progressive, 432 Spongy degeneration of brain, 115 STEROID 17o-HYDROXYLASE DE• with onset before age 1 yr, 415 Spontaneous keloids, 551 FICIENCY, 903 with onset during infancy, 492 Spoon nails, 559 STEROID 17, 20-DESMOLASE DE• Sporadic nongoitrous cretinism, 946 FICIENCY, 904 Spastische Diplegie, 295 Sporadische olivopontocerebellare Sp<'itmanifeste Fazialisparese, 378 STEROID IS-HYDROXYLASE DE• Atrophic, 746 FICIENCY, 905 Spiitmanifeste Osteopetrose, 780 "Spotted bones," 781 Spatmanifester Immunok6rpermangel, 521 STEROID 18-HYDROXYSTEROID DE• Spotted corneal dystrophy, 212 HYDROGENASE DEFICIENCY, Sp<'itmanifestes Lymph6dem, 615 SPRENGEL DEFORMITY, 901 Sphiirophakie-Brachymorphic-Syndrom, 893 906 Sprengelsche Difformitiit, 901 STEROID 20-22 DESMOLASE DEFICIENCY, Spharozytose, 892 Stance, wide-based, 825 Speech (also see Voice, and Section III, 907 Stancsco dysostosis, 226 STEROID 21-HYDROXYLASE DE- Table XXVII) Stapes delayed, 138,157, 162,247, 263,264, FICIENCY, 908 defect of, 28,247, 331,627,664,773, Stickler syndrome, 90 266,422,450, 803, 823, 967 786 indistinct, 12, 93, 97,123, 155,157,180, Stilling-TUrk-Duane syndrome, 889 fixed footplate, 97,183,315,664,667, Stippled epiphyses, deafness and goiter 266, 269, 270, 376, 388, 450, 469, 1001 with high levels of serum thyroid 472,478,618,651, 722, 742,744, fused, 787 hormone, 257 745,746,747,818,958,959,995 Stargardt disease, 400 Stomach scanning, 742,744,746,747 Starvation, 910 distended, 300, 910 slow, 94 Stationiirc Nachtblindheit, 719 displaced, 528 slurred, 223, 508 Stature (also see Section III, Table XXIX) failure of rotation, 913 Sphenoid bone, defect of, 28, 712 disproportionate, short prenatally, with failure to differentiate into fundus, Spherocytic anemia congenital, 892 short limbs, 8, 9,10, 16, 153,154, body and pyloric areas, 913 156, 293,940 SPHEROCYTOSIS, 892 gastric perforation, 823, 911 SPHEROPHAKIA-BRACHYMORPHIA disproportionate, short, with short limbs, 19, 20, 122,226,308,358,557,646, iastrocolic fistula, 912 SYNDROME, 893 herniation above diaphragm, 471 647,648,649,652,653,685,828 Sphingomyelin lipidosis, 717 intussusception of gastric wall, 535, disproportionate, short prenatally, with 911 Spielmeyer-Vogt disease, 713 polyps, multiple in, 412 Spina bifida, 182,230,329,735 short trunk (decreased crown-pubis length), 896, 900 pyloric stenosis, infantile, 162, 388, 754 aperta, 481 STOMACH ATRESIA, 910 disproportionate short trunk (decreased cervical, 247 STOMACH DIVERTICULUM, crown-pubis length), 306, 394,671, 911 lumbosacral, 292, 602 STOMACH DUPLICATION, 912 798, 897' 898, 899 occulta, 101, 157,159, 162, 281,901 STOMACH HYPOPLASIA, markedly short, 828 913 spina bifida occulta of L5, 22 STOMACH TERATOMA, 914 proportionate, short, 185, 302, 303, 382, spina bifida occulta of S1, 22 StOrung des lad-Transports, 542 447,738,976 thoracic, 292 Strabismus (also see Section III, short (sec Section III, Table XXIX) Table Spina bifida cystica with paralysis, 693 XXIV) short, markedly, 828 Spina bifida cystica without neurologic alternating, 250, 791 tall, 85, 90,137,556,578,670 deficit, 642 convergent, 159, 182,223, 261, 394 Spinal cord Steinert disease, 702 divergent, 163,225,504,667 cleft, 292, 693 Stenose aortique supra-valvulaire, 78 pseudostrabismus, 620 compression of, 10,517, 678 Stenose de Ia 'artCre pulmonaire, 835 vertical, 261 large, 924 stenose de l'oesophage, 369 rootlet irritation of, 10,678 Stenose des valves aortiques, 80 Strahlenembryopathie, 383 Spinal cord cavitation, 924 StCnose des valvules pulmonaires, 839 Strangulated hernia, 529 SPINAL CORD, NEURENTERIC CYST, Steflose du pylore, 848 Streeter dysplasia, 874 894 stenose fibreuse sous-aortique, 916 Streptomycin-sensitivity deafness, 272 Spinal dysraphism syndrome, 602 stenose nasopharyngee, 707 Stridor (see Section III, Table XXXI) SPINAL MUSCULAR ATROPHY, 895 stenose sous-aortique, 917 Structural defect of CNS (see Section Ill, Spleen Stenose sous-glottique, 919 Table XXXVI) absence of, 606, 727 Stenose tricuspidienne, 970 STURGE-WEBER SYNDROME, 915 cyst, 240, 859 stenose ventriculaire droite, 731 SUBAORTIC STENOSIS, FIBROUS, 916 polysplenia, 816 Stenoses pulmonaire multiples, surdite SUBAORTIC STENOSIS, MUSCULAR, ruptured, 406, 892 mixte, brachyt€lt!iphalangie calci• 917 splenomegaly (see Section III, Table fication des cartilages, 263 Subarachnoid hemorrhage, 859 XXXlll) Stenosis at the conus elasticus, 571 Subclavian artery, anomalous origin of Splenic agenesis, 92 Stenosis of anterior nares, 723 contralateral, 63 Splenic cysts, 240 Stenosis of aortic valve, 80 Subclavian artery, isolation from aorta, 546 Split-hand deformity, 336 Stenosis of aqueduct of Sylvius, 481 Subcostosternal hernia, 289 Split hand or foot with cleft lip, 337 Stenosis of ostium infundibulum, 731 SUBGLOTTIC HEMANGIOMA, 918 Index 1177 SUBGLOTTIC STENOSIS, 919 SurditC neurosensorielle, diverticulite in- Syndrome cerebro-oculo-facio-sq uelettiq ue, Subglottic stenosis, hard, 919 tcstinale et neuropathic, 265 140 Subglottic stenosis, soft, 919 SurditC pour les basses frCquenccs, 260 Syndrome colobomc-atr6sic anale, 544 Subglottic web, 574 SurditC pour lcs sons graves, 256 Syndrome cranio-oculo-dentaire, 229 Subglottischer Hiimangiom, 918 SurditC sCvere recessive neurosensorielle, 271 Syndrome cubito-mammaire, 981 Subluxation of lens, 584 Surdocardiac syndrome, 123 Syndrome d'Abcrfeld, 155 Submerged teeth, 927 SurCICvation de l'omoplate, 901 Syndrome d'Aistr6m, 41 Submucous cleft palate, 180 Sutural cataract, 132 Syndrome d'ataxie et hypogonadisme, 93 Succinylcholine apnea, 152 Suxamethonium sensitivity, 152 Syndrome d'Fdwards, 160 Sucking reflex Swallowing reflex Syndrome d'Ehlers~Danlos,338 absent, 139 absent, 139 Syndrome d'hypercalcemie precoce, 999 poor, 121, 139,823 poor, 139, 823 Syndrome d'impregnation alcoolique de retained into childhood, 413 Sweating (also see Section III, Table XXVIII) foetus, 379 Sucrase-01- dcxtrinase insufficiency, 920 Sweating, gustatory, 448 Syndrome d'osteoporose et pseudogliomc, Sucrase insufficiency, 920 Sweating, increased, 424 783 SUCRASE-ISO MALTASE DEFICIENCY, Sweaty feet syndrome, 547 Syndrome d'Usher, 983 920 Swedish genetic porphyria, 820 Syndrome de Aarskog, I Sucrose-isomaltose intolerance, 920 Swiss-cheese cartilage syndrome, 557 Syndrome de Bartter, 100 Sudaci6n asociada a Ia gustaci6n, 448 Swiss-type agammaglobulinemia, auto- Syndrome de Basan, I 02 Sudation gustative, 448 somal recessive, 522 Syndrome de Berlin, 105 Sulcus mentalis, 146 Swiss type agammaglobulinemia, X-linked, Syndrome de Bloom, 112 SULFITE OXIDASE DEFICIENCY, 921 524 Syndrome de Chediak-Higashi, 143 Sulfitoxydase-Mangcl, 921 Swyer syndrome, 437 Syndrome de Cockayne, 189 Sulfocysteinuria, 921 Symbrachydactyly with ipsilateral aplasia Syndrome de Coffin-Lowry, 190 Superior epiblepharon, 355 of sternal head of pectoralis major Syndrome de Cornelia de Lange, 242 Supernumerary caruncle, 130 muscle, 813 Syndrome de dCietion 5p, 163 Supernumerary nipples without obvious Syncope and QT prolongation without Syndrome de Dubowitz, 299 glandular tissue, 815 deafness, 610 Syndrome de Dyggve-Melchior-Clausen, 306 Supernumerary puncta and canaliculi, 844 Syndactylic de type Poland, 813 Syndrome de fCminisation testiculaire, 49 Supernumerary teeth (Marker), 936 SYNDACTYLY, 923 Syndrome de feminisation testiculaire in- Supraaortic stenosis, 78 Syndactyly (see Section III, Table XXIX) complete, 50 Supraclavicular pulsating mass, 74 Syndactyly type I (zygodactyly), 923 Syndrome de figure foetale, 876 Supracristal ventricular septal defect, 989 Syndactyly type II (synpolydactyly), 923 Syndrome de Gardner, 536 Supraglottic web, 574 Syndactyly type III (ring and little finger Syndrome de Gorlin-Chaudhry-Moss, 440 Supraorbital ridge (also see Eye, Orbital syndactyly), 923 Syndrome de Grebe, 445 roof) Syndactyly type IV (Haas type and Cenani• Syndrome de Hanhart, 451 prominent, 190,847 Lenz type), 923 Syndrome de hcrnie uterine, 683 shallow, 139, 168,227 Syndactyly type V (syndactyly with meta• Syndrome de Horner, 475 Supravalvar aortic stenosis, 78 carpal and metatarsal fusion), 923 Syndrome de Jervell-Nielsen, 123 Supravalvular pulmonary stenosis, 835 Syndacktylie, 923 Syndrome de Klinefelter, 556 Supravalvuliire Aortcnstenose, 78 Syndrom der ballonierenden Mitralklappe, Syndrome de Kniest, 557 Supravalvuliire Pulmonalstenose, 835 668 Syndrome de l'acide phyt::i.nique, 810 Supraventricular tachycardia paroxysmal, Syndrom dcr brei ten Daumen und Gross• Syndrome de l'arche aortique droite, 77 922 zchen, 119 Syndrome de Ia rivierc Kuskokwim, 560 SUPRAVENTRICULAR TACHYCARDIAS, Syndrom der friihkindlichen Hyperkalziimie, Syndrome de Larsen, 570 CONGENITAL, 922 999 Syndrome de Laurencc-Moon-Biedl, 578 Surco nasal transversa, 728 Syndrom der multiplen endocrinen Tumorcn Syndrome de Lesch-Nyhan, 588 Surdi-mutitC semiiCthale, 243 I, 350 Syndrome de Liddle, 590 SurditC, anomalies n~naleset digitales, 264 Syndrom der multiplen endocrinen Tumoren Syndrome de Marden-Walker, 629 SurditC avec onycho-dystrophie, 252 II, 351 Syndrome de Marfan, 630 SurditC causCe par Ia strcptomycinc, 272 Syndrom der multiplen endocrinen Tum oren Syndrome de McDonough, 632 SurditC cochlCaire, myopie et oligophrCnie, lll, 352 Syndrome de Meckel, 634 251 Syndrom der multiplen Lentigines, 586 Syndrome de megalocornee et retard mental, SurditC de conduction-insertion basse des Syndrom dcr Placenta circumvallata, 187 638 oreilles, 254 Syndrom de<> cingeschlagenen Daumens, 175 Syndrome de Menkes, 643 SurditC de conduction par malformation Syndrom des Iangen QT ohne Taubheit, 610 Syndrome de Mohr, 771 des osselets, 244 Syndrom des Linearen Naevus sebaceus, 593 Syndrome de Moynahan, 670 SurditC de perception, polynCurite ct Syndrom von Ataxic und Hypogonadism us, Syndrome de Naegeli, 703 atrophic optique, 268 93 Syndrome de naevus sCbad, 593 Surdit6 de perception pour less andes de Syndrom von Hyperhydrose, vorzeitig ergrautem Syndrome de Nathalie, 785 fr6qucnce moyenne, 267 Haar und Aplasie der Pramolaren, Syndrome de Noonan, 720 SurditC de perception prCcoce, 270 493 Syndrome de Prader-Willi, 823 SurditC de perception (unilatCrale), 274 Syndrom von Megalocornea und geistiger Syndrome de Rcifenstein, 855 SurditC, dermatite atopique, 245 Retardicrung, 638 Syndrome de Roberts, 875 SurditC, diabetc, 246 Syndrom von Osteoporose und Pseudo• Syndrome de Rokitansky-Kiister-Hauser, SurditC, Cpiphyses ponctuCes, goitre avec gliom, 783 682 CICvation du taux sanguin en hor• Syndrome amCloo~n~brohypohydrotique,Syndrome de Rubinstein-Taybi, 119 mones thyrofdicn, 257 44 Syndrome de scimitar, 879 SurditC, fossettes auriculaircs, 247 Syndrome branchio-squeletto-gCnital, 118 Syndrome de Silver, 887 SurditC hCr6ditaire progressive pour les tons Syndrome C, 121 Syndrome de Smith-Lcmli-Opitz, 891 aigus, 269 Syndrome campomClique, 122 Syndrome de sphCrophakie-brachymorphie, SurditC hratopachydermie, constrictions Syndrome cardiomCiique, 455 893 digitales, 259 Syndrome cataracte-ichtyose, 131 Syndrome de Swyer, 437 Surdit6, nanisme, vitiligo, hypotrophie Syndrome cerCbro-costo-mandibulaire, 138 Syndrome de symphalangisme ct brachy~ musculaire et achalasie, 275 Syndrome cerCbro-hCpato-renal, 139 dactylic, I 001 1178 Index Syndrome de thrombocytopenic avec Tachypnea, 91, 107, 288, 34 7, 365, 396, premature loss of permanent, 102, 278, absence de radius, 941 549 279,280,410,494,806 Syndrome de thrombocytopCnie avec Takahara syndrome, 6 rotated, 825,933 hemangiome, 456 Talasemia, 939 sensitive to temperature change, 46 Syndrome de Ullrich-Turncr, 977 Tall, prenatally, 137 shovel-shaped, 607 Syndrom"e de Van den Bosch, 986 Tall stature greater than 2 SD above ap• small, 226,291, 394,593,607,660,674, Syndrome de von Hippe!-Lindau, 995 propriate mean, 85, 90, 137,556, 739, 823, 933, 934, 936 Syndrome de Waardenburg, 997 578, 670 spacing variants of, 46, 242, 281, 291, Syndrome de Winchester, 1000 Tall with long limbs, 90 607,631,676,934 Syndrome de Wiskott-Aldrich, 523 Tangier disease, 48 tuberculate, 385, 936 Syndrome de Wolff-Parkinson-White, 1002 TAPETOCHOROIDAL DYSTROPHY, TEETH, ANKYLOSED, 927 Syndrome dextrocardie-bronchiectasies, 925 Teeth, carnivore-like, 607 285 Tapetoretinal degeneration, 869 TEETH, CONCRESCENCE OF ROOTS, Syndrome G, 401 Tapetoretinal degeneration and ataxia, 136 928 Syndrome hyperhidrosc-blanchiment Tapetoretinal degeneration (some forms), TEETH, DILACERATED, 929 precoce des cheveux-aplasie des 20I Teeth, enlarged, 617 pnbmolaircs, 493 Tapetoretinal degeneration, typical, 2, 70, TEETH, FUSED, 930 Syndrome hyperh~lorisme-hypospadias, 136,578,713, 810, 865, 983, 993 TEETH, GEMINATED, 931 505 Tapetoretinal dystrophy, 869 Teeth, ghost, 739 Syndrome hyperuricCmie-surdite-ataxie, Taquicardia supraventricular congenita, 922 TEETH, IMPACTED, 932 508 TAR syndrome, 941 TEETH, NATAL OR NEONATAL, 933 Syndrome oculo-cerCbro renal, 736 Tarsomegaly, 311 TEETH, PEGGED OR ABSENT MAXIL- Syndrome oculo-mandibulo faciale, 738 Taste blindness, 809 LARY LATERAL INCISOR, 934 TEETH, SNOW-CAPPED, 935 Syndrome of bilateralleft-sidedness, 816 Taubheit durch Streptomycin-Empfind• TEETH, SUPERNUMERARY (MARKER), Syndrome of bilateral right-sidedness, 92 lichkcit, 272 936 Syndrome of cerebellar ataxia and hypo- Taubheit, Kleinwuchs, Vitiligo, Muskcl• TEETH, THISTLE-SHAPED PULP gonadotropic hypogonadism, 93 hypotrophie und Achalasie, 275 CHAMBERS, 937 Syndrome of congenital asymmetry, short Taubheit-multicentrische Ossifikation der Telangiectasia and ataxia, 94 stature and variations in sexual de• Epiphysen, hohes eiweissgebundenes velopment, 887 Telangiectasia retineana e hipogamaglo• Jod, 257 bulinemia, 868 Syndrome of essential tremor, congenital Taubheit, renale und digitale Fehlbildungen, Tetangiectasie retinienne et hypogamma• nystagmus, duodenal ulceration and 264 globulinemie, 868 narcolepsy-like sleep disturbance, 963 Taubheit und atopische Dermatitis, 245 Telangiektasie der Retina und Hypogamma- Syndrome of mental retardation, seizures, Taubheit und Diabetes mellitus, 246 globulinimie, 868 hypotonic cerebral palsy and megalo• Taubheit und Nageldystrophie, 252 Tclecanthus, 356 cornea, 638 Taubheit und Ohrgri.ibchen, 24 7 Telecanthus-hypospadias syndrome, 505 Syndrome of pseudogliomatous blindness, Taubheit und Struma, 249 Telecanthus with associated abnormalities, osteoporosis and mild mental retarda• Taurodoncia (Marcador), 926 505 tion, 783 Taurodontie, 926 Tembloc hereditario, 964 Syndrome oligophrenie-epilepsie ichtyose, TAURODONTISM (MARKER), 926 Temporal bone 741 Taussig-Bing syndrome, 297 absence or hypoplasia of petrous Syndrome oro-facio-digital I, 770 Tay-Sachs disease, 434 Syndrome osteo-angio-hypertrophique, 55 portion, 562 Syndrome oto-palato-digital, 786 Teeth (also sec parts, kinds of teeth and bulging, 777 Syndrome QT long sans surdite, 610 Section 111, Table XXVII) cholesteatoma of petrous pyramid Syndrome thymome-agammaglobulinemia, abnormally shaped, 276, 739, 927 of, 150 944 brittle, 302 narrow, 190, 603 Syndrome tricho-rhino-phalangien de type I, conical, 276, 333,408,439, 936 small mastoid process of, 664 966 crossbite, 178, 626 Tendones flexores cortos de los dedos e Syndrome tricho-rhino-phalangien de type crowded, 225, 226, 4 74, 554, 61 7, 667, incapacidad para abrir Ia boca en II, 967 825 forma completa, 882 Syndrome \V, 791 delayed eruption, 105, 185, 242, 302, Teratoid cyst, 760 Syndromes of hereditary persistence of 310,410,739,780,784,825,830, Teratoid tumor of head or neck, 283 fetal hemoglobin (some forms), 939 928,931,946,949,965 Teratologic syndrome of visceral hetero- Synkinetic ptosis, 548 delayed loss of, 407, 493, 846 taxy, 92 Synopthalmia, 234 displaced, 278,394,474,539,674,825, Teratom der Magcn, 914 Synostose humero-radiale, 477 846, 929, 936 Teratoma, 760 Synostose radiale cubitale, 854 excessive attrition, 277, 341, 965 Teratoma g:istrico, 914 Synostosis of digits, 14, 22,874, 923 extra, 178,185,738,933,936 Teratoma sacrococcygeal (benign or Synotia, agnathia and microstomia, 28 impacted teeth, multiple, 45, 46, 118, malignant), 877 Syphilis, congenital, 385 394, 407, 408, 617. 739, 784, 929, Teratoma sacrocoxfgeo, 877 Syphonoma, 235 932, 936 Teratomas of the orbit, 283 SYRINGOMYELIA, 924 impacted tooth, single, 45, 46, 394,407, Teratome gastrique, 914 Systematized mesodermal dysplasia, 644 408, 739, 784, 928,929, 932, 936 Teratome sacrococcygienne, 877 Systemic elastorrhexis, 832 imperfect, 281, 388,739, 770,846 Tesaurismosis de histologically normal before puberty, in same plane as fingers, 455 absence of 1 or more (see Ectrodactyly) 49 large, 13 crowding of, 754 in inguinal canal, 831, 855 medially placed, 280 curved 5th, 72 interstitial fibrosis of, 855 narrow, 85, 172 decreased range of motion, 450 Leydig cell hyperplasia in, 49, 855 proximally placed, 293 decreased range of motion at inter- Ley.dig cell hypoplasia in, 438 radial deviation of distal phalanx, 817 phalangeal joints, 650 male gender with hypogenitalism, 13, 302 short, 231, 455, 700, 769, 853, 875, duplication of 2nd, 817 small, 47, 105, 155,438,529,556, 634, 881, 987 extra on fibular side of foot, 17, 22, 702, 855 short distal phalanx of, 114,264,817 121,578,634,814 sperm decreased, 438 soft tissue syndactyly of thumb and extra on tibial side of foot, 649 testicular enlargement, nodular, 908 palm, 980 flexion deformity of proximal inter• testicular germinal cell hypoplasia, 169 syndactyly with index finger, 22 phalangeal joints of, 85 undescended, I, 13, 88,104,119,121, T11Umb extensors, aplasia or hypoplasia, fusion of middle and distal phalanges of 139, 159, 160, 163, 167, 168, 170, 175 3rd-5th, 262 173, 189, 242, 254, 305, 337,408, Thumb polydactyly, 814 hammer, 89, 140, 393 438, 544,578,586,587, 603, 632, Thumbs elapsed, 175 lateral deviation of, 392 634,635,683,720,736,754,818, THYMIC AGENESIS, 943 mediodorsal curvature of 4th, 769 823, 857,891,903,908,909, 952 Thymic alymphoplasia, 524 overlapping, 159 with female gender, 49 Thymic aplasia, 943 partial soft tissue syndactyly of toes 2 Tetracuspid pulmonary valve, 840 THYMOMA AND AGAMMAGLO• and 3, 172, 923 Tetracycline discoloration of enamel and BULINEMIA SYNDROME, 944 short, 16, 20, 114, 121,392,459,578, dentin, 341 Thymoma with "acquired" combined 667,700, 8!8, 1001 TETRALOGY OF FALLOT, 938 immunodeficiency, 944 short distal phalanx of, 19, 21, 262, 409, Tetralogy of Fallot \'.'ith absent puhnonary Thymusagenesie, 943 786, 846 valve, 836 Thymus gland shortening marked of, 8, 114, 445 Tetraphocomelia with cleft lip and palate absence of, 522, 655 stocking syndactyly, 14 (and penis or clitoris hypertrophy), large, for age, 104 syndactyly of, 13, 22, 55, 97, 121, 179, 875 small, 139 259, 337, 376,393,578,634,662, THALASSEMIA, 939 Thyroglossal duct, cyst or sinus, 945 817' 818, 885 Tetralogy ofFallot, 182,388,720,941 THYROGLOSSAL DUCT REMNANT, syndactyly of 4th and 5th, 229 Thalidomide embryopathy, 386 945 syndactyly of 2nd and 3rd, 229, 506, Thalidomide external ear malformation, 664 Thyroid 554,603,634,769,887,891,923 Thanatophorer Zwergwuchs, 940 atrophy of, 946, 948 synostosis, 14,874, 923 Thanatophoric dwarfism, 940 ectopic, 946 widely spaced, between !stand 2nd, 171 THANATOPHORIC DYSPLASIA, 940 goiter, 249,257, 350,412, 435,542, Tomato tumor, 235 Thickening and deformities of chordae 543, 809, 947 tendineae, 666 goiter, nontoxic, Ill Tongue Third degree atrioventricular block, 454 hypofunction of, 412, 702, 946 bifid, 281' 634, 636, 735, 770, 952 of, 401 Thomsen disease, 701 infection of, 412,525 cleft of anterior tip to lingual foramen, Thoracic dysplasia, asphyxiating, 91 large, 391,435, 542, 543, 948 cystic mass connected Thorax en can~ne,801 tumor of, 350,412 945 Thorax en en tonnoir, 802 THYROID DYSGENESIS, 946 decreased mobility of, 61, 177,636 deep central furrow of, 953 Thoraxdysplasie-Polydaktylie-Syndrom Typ THYROID PEROXIDASE DEFECT, 947 downward displacement of, 182 Majew~ki,883 Tiwroidal deiodination deficiency, 543 fissured, 953, 954,956 111oraxdysplasie-Polydaktylie-Syndrom Typ THYROTROPIN DEFICIENCY, geographic, 954,956 Saldino-Noonan, 884 ISOLATED, 949 glossitis, 15,618 3/1-HSD deficiency, 909 Thyrotropin (TSH)-Unempfindlichkeit, hamartoma of, 662, 770 3/1-hydroxysteroid dehydrogenase and iso• 948 large, 171,618,754 merase deficiency, 909 THYROTROPIN (TSH) UNRESPONSIVE• leukoplakia of, 789 Thrombocytopenia and hemangioma syn• NESS, 948 papilloma of, 281, 634 drome, 456 THYROXINE-BINDING GLOBULIN paralysis of, 376 THROMBOCYTOPENIA WITH ABSENT DEFECTS (MARKER), 950 plica ted, 954, 956 RADIUS, 941 Tibia at apex of, 952 THROMBOCYTOPENIC PURPURA AND absence of, 875 polypoid growth posteriorly positioned, 28 LIPID HISTIOCYTOSIS, 942 anterior dislocation onto femur, 570 754 Thrombocytopenie-Radiusaplasie-Syndrom, bowed anteriorly (saber shin), 385, 777 protruding, 171, 941 bowed midportion of, 648 scalloped edge on, 789 576 Thrombocytopenische Purpura und Histio• bowing of, 122, 712, 775 small, 28, 376,451, cytose, 942 disproportionately short, 883 sublingual mass, 760 Thumb (also see Digit, Finger, Joints, and long, 122 taste impaired, 378 Section Ill, Table XXIX) short, 19,646,648,649, 875 tender or burning, 954 tongue-tie, 61,574,599,770 absence of, 160,167,231,455,649,875 Ohren, 327 Ticfsitzende trifid, 770 angulation deformity of, 119 260 Ticfton-Schwerh6rigkeit, ulceration of, 618 bifurcation of distal phalanx, 22, 264, 145,248,530, 787 Tinnitus, 12, unusual mobility of, 338,951 621,817 Tip of nose (also sec Nose) broad, 22, 119, 325,570, 621, 754 bifid, 595, 724, 771 TONGUE, CLEFT, 952 decreased extension of, 175 broad, 16, 166, 168,506,771,791, Tongue curling, 951 defect of, 22, 114,981 89I TONGUE, FISSURED (MARKER), 953 distally placed, 769 bulbous, 168,226,966,967 TONGUE FOLDING OR ROLLING duplication of, 13, 51, 72, 621,814 dimple at, 16 (MARKERS), 951 duplication of finger-like, 72,814 pug nose, 157,893 TONGUE, GEOGRAPHIC, 954 finger-like (triphalangism), 51, 72,262, upturned, 242, 629, 876 Tongue gigantism, 618 382,455, 544 Tirosinemia, 978 Tongue, median cleft, 636 i1exed across palm, 85, 175 Toe (also see Digit, Hallux, Joints, and TONGUE, PIGMENTED PAPILLAE fixed, 769 Section III, Table XXIX) (MARKER), 955 1180 Index TONGUE, PLICA TED (MARKER), 956 Total cataract, 132 TRICHO-DENTO-QSSEOUS SYNDROME, Tongue, prominent pigmented papillae of, Tourainc-Solente-Gol6 syndrome, 788 965 955 Townes syndrome, 72 Tricho-rhino-auriculo-phalangeal multiple Tongue-tie, 61 Toxoplasmose congeni tale, 387 exostoses dysplasia, 967 Tamil Toxoplasmosis cong6nita, 387 TRICHO-RHINO-PHALANG EAL agenesis, bilateral, 27,522,524,655, Toxoplasmosis, infantile, 387 SYNDROME, TYPE I, 966 790 Trachea TRICHO-RHINO-PHALANGEAL agenesis ipsilateral to microtia, 664 airway obstruction, 117 SYNDROME, TYPE II, 967 agenesis, unilateral, 790 cleft in posterior wall of, 577 Trichterbrust, 802 small, 524 tracheobronchial tree, defect of, 156 Tricuspid incompetence, 969 teratoid tumor of, 664 tracheoesophageal atresia, 5 71 Tricuspid regurgitation, 969 Tooth and nail syndrome, 511 fistula, 160, 300,364, 365,571, TRICUSPID VALVE ATRESIA, 968 Tooth cementum 727' 960, 987 Tricuspid valve, downward displacement, excessive, 928 tracheomalacia, 557 332 fused to bone, 927 Tracheal lobe, 611 TRICUSPID VALVE INSUFFICIENCY, Tooth crown TRACHEOESOPHAGEAL FISTULA, 960 969 bulbous shape of, 279 Tracheoesophageal fistula and e~ophageal TRICUSPID VALVE STENOSIS, 970 exaggerated cingulum of, 276, 607 atresia, 365 Tricuspidal insuffizicnz, 969 fractured, 739 Tragus, unspecified defect of, 664 Tricuspidalatresic, 968 fused with crown of adjacent tGoth, Tragus-Aplasie, 312 Tricuspidalstenosc, 970 930 Triinengangsatresie, 563 Tridermal gastric teratoma, 914 moth-eaten appearance, 46 Triinengangsstenose, 705 Tridermic teratoma of stomach, 914 ovoid shape of, 843 Triinensackfistel, 565 Tridcrmoma of head or neck, 283 small,607 Transferrin variant markers, 95 Tridione syndrome, 388 TRANSGLUCURONYLASE, SEVERE Trifid tongue, 952 Tooth dentin Trigeminal nerve, decreased function of, confluent with that of adjacent tooth, DEFICIENCY, 961 Transient adrenocortical insufficiency of 188 930 Trilobed calvaria, 55 contains porphyrins, 821 infancy, 23 "Transitional" cases presenting some clinical Trilogy of Fallot, 839 hypocalcification of, 739, 931 Triple nares, 722 hypoplasia of, 739, 931 manifestations of both classic incon· tinentia pigmenti and Naegeli syn• Triploid/diploid mosaicism, 169 radicular type of dysplasia of, 118 Triploidie; 169 drome, 703 Tooth enamel Trisomic 8, 157 abrades easily, 279 Translocation 21 syndrome, 171 Trisomic 1 3, 168 contains porphyrins, 821 Transposici6n completa de los grandes Trisomie 13-15,168 fractures easily, 46, 279, 777 vasos, 962 Trisomie 18, 160 hypocalcification of, 45, 739, 931 Transposici6n del higado, 606 Trisomic 21, 171 hypomaturation of, 342, 784, 935 Transposition complete des gross vaisseaux, Trisomie distal 14q, 165 hypoplasia of, 46, 678, 873 962 Trisomic proximale 14q, 166 soft, 46 Transposition der grossen Gefasse, 962 Trisomy Dl syndrome, 168 variable color of, 45, 46, 262, 277, 279, Transposition du foie, 606 TriSomy G syndrome, 171 302, 340,341,703,732, 777,784, TRANSPOSITION OF GREAT VESSELS, Trisomy-8/normal diploid mosaicism, 157 821,927,933,935,965 962 Trisomy 13-15 syndrome, 168 Tooth, hair, bone and nail dysplasia, 965 Transposition of liver, 606 Tritanomaly, 199 Tooth pulp chamber Transversales septum vaginae, 985 Tritanopia, 199 dental pulp stones in, 276,277,739, Transverse nasal groove (Marker), 728 Trousseau sign, positive, 515,873 843 Transverse nasal stripe, 7.28 True agonadism, 29 enlarged in all dimensions, 279, 739 Transverse vaginal septum, 985 True cholesteatoma, 150 enlarged in apical dimensions, 926, 965 Traumatic keloids, 551 True esophageal diverticulum, 367 necrotic, 276, 607 Treacher Collins syndrome, 627 TRUE HERMAPHRODITISM, 971 obliterated, 118,279 Tremblement essentiel et ulc6ration True Klinefelter syndrome, 556 small, 279 duod6nale, 963 True median cleft, 595 variably shaped, 118,277, 278,280, Tremblement h6r6dofamilial, 964 True or primary anophthalmos, 67 843, 937 Tremor, 2, 93, 188,344,469,472,547, True transposition of great vessels, 962 671,742,744,745,746,747,759, Truncal obesity, 302, 823 Tooth root 791,895,957,963,964 block·shaped, 926 TRUNCUS ARTERIOSUS, 972 autosomal dominant, 964 Truncus arteriosus communis persistens, diverged roots of central incisors, 631 coarse, 744, 895 fused with root of adjacent tooth, 928, 972 increased with fatigue, 963, 964 Trunk 930 intention, 188,469, 744, 759 large root canal, 843 long, 157, 303 of facial muscles or tongue, 964 narrow, 157 resorption of, 407, 932 of hands, 472,963 short, I18, 277,278,279,280,739, short, 121,783 of head, 746,747,963 TRYPSINOGEN DEFICIENCY, 973 843, 929 of trunk, 746, 964 thin or dilacerated, 279 Trypsinogenmangelkrankheit, 973 while at rest, 469, 744 TRYPTOPHAN MALABSORPTION, 974 T6rax en quilla, 801 with onset in childhood, 963 Tuberculc de Darwin, 241 TORSION DYSTONIA, 957 TREMOR, DUODENAL ULCERATION TUBEROUS SCLEROSIS, 975 Torsion of trunk or limbs, 957 SYNDROME, 963 Tubular male pseudohermaphroditism, TORUS MANDIBULARIS, 958 Tremor·Duodenalulcus-Syndrom, 963 683 Torus palatino, 959 TREMOR, HEREDOF AMILIAL, 964 TUBULAR STENOSIS, 976 TORUS PALATINUS, 959 Tr6mulation du menton, 147 Tubuliire Azidose und Innenohrschwer• Total anomalous hepatic venous return, Treponema pallidum in utero, 385 hOrigkeit, 863 468 Triangular shape of calvaria, 121, 162, 167, Tubuliire Stenose, 976 Total anomalous pulmonary venous re· 470 Tumefacci6n fibrosa intra6sea mandi• turn, 842 Trias fragilitis ossium hereditaria, 777 bular, 539 Index 1181 Tumeur du cortuseule carotidien, 127 ULNAR-MAMMARY SYNDROME, TYPE URTICARIA, DEAFNESS AND AMYLOID- Tumeur mixte des glandes saliva ires, 878 PALLISTER, 981 OSIS, 982 Tumeur neuro-cctodermique pigmcnt6e, Ulnare Abweichung mit Schwimmhauten Urticaria, sordera y amiloidosis, 982 711 und Kontrakturcn, 980 Urticaria, Taubheit und Amyloidose, 982 Tumcurs du systeme ncrvcux central, 188 Ulnofibular dysplasia, Reinhardt-Pfeiffer USHER SYNDROME, 983 Tumcurs glomiques multiples, 416 type, 648 Uterine hernia syndrome, 683 Tumor, bulging into perineum, 877 Umbilical hernia, 748 Uterine inguinal hernia syndrome, 683 Tumor del cuerdo carotideo, 127 Umbilical ring widely open, 104,671,748 Uterus Tumorcs mUltiples de los glomos, 416 Uncorrected transposition of great vessels, bicornuate, 104, 168,571,578 Tumor mix to hereditario de las ghindulas 962 fibroid tumor of, 412 salivares, 878 Unicommissural aortic valve stenosis, 80 hydrometrocolpos at menarche, 860 Tumor neuroectod6rmico pigmentado, 711 Unilateral dental malformation, 739 hyperplastic, 104 Tumors of nervous svstem Unilateral hyperopia, 59 infantile, 173, 438, 904 astrocytoma, 12- Unilateral hypertrophy, 458 infantile miillerian derivatives, 436 cavernous hemangioma of CNS, 113 Unilateral inner ear deafness, 274 rudimentary miillerian, 682 glioma of CNS, 345, 346, 351, 712 Univcntricular heart, 286 rupture of, 684 hemangioblastoma of CNS, 995 Unsteadiness, 963 small, 437 medulloblastoma, 101 Unterbrechung des Aortcnbogens, 76 unspecified defect of, 173, 860 menigioma, 12, 351 Upper limb cardiovascular syndrome, 455 variable defects of, 884 neuroma ofCNS, 712 Urbach-Wiethe syndrome, 599 with male gender, 683 Tune deafness (Marker), 273 Uterus arcuatus, 684 Tllnel a6rtico-ventricular izquierdo, 82 Ureter Uterus bicornus, 684 Tunnel aortico-ventriculaire gauche, 82 dilation of, 7 32 Uterus bicornus unicollis, 684 Turban tumors of scalp, 235 duplication of, 264 Uterus bifide, 684 Turbantumoren, 235 hydroureter, 337,571,578 Uterus bilocularis, 684 Turner phenotype with normal karyotype, hypoplasia of, 634 Uterus bipartitus, 684 720 obstruction of, 264 Uterus didelphys, 684 TURNER SYNDROME, 977 stenosis of, 574 Uterus-Hernie, 683 Turricephaly, 230 ureteral reflux, 157 Uterus pseudodidelphys, 684 Two-chambered right ventricle, 731 ureteral reflux bilateral, 732 Uterus subseptus, 684 Type III, A, ii vitamin D refractory rickets Urethra Uterus unicorn us, 684 with aminoaciduria (classification atresia of, 571 Uveal pigment, decreased, 143 of Fraser and Slater), 873 duplication of, 194 Uvula Typical iris colobomas, ciliary body, choroid, epispadias, 156 broad, 22, 791 hypospadias, 97, 118, retina, optic nerve, 733 159, 160, 162, brown to brownish-red macules on, 164,167,168,170,242,388,401, Typical retinoschisis, autosomal dominant, 955 871 505,578,586,855,891,903, 971 cleft of, 118,164,172,177,178,181, Typus degenerativus Amstelodamensis, 242 opens into vagina, 173 184, 225,264,401, 505, 574, 720, TyrosinJ:mie, 978 rectourethral fistula, 401,885,987 735, 981 severe displacement Tyrosinase negative oculocutaneous of urethral meatus, long, 22 albinism, 34 401,831,855 short, 401 Tyrosinase-ncgativer okulo-kutaner urethral meatus displaced to coronal Uvula, cleft, 184 sulcus (lst degree), 401,518 Albinismus, 34 Uvula hendida (Marcador), 184 urethral meatus displaced to perineum Tyrosinase positive oculoeutaneous albinism, (4th degree), 50, 518,909 35 urethral meatus Tyrosinase-positiver okulo-kutaner displaced to scrotum (3rd degree), Albinismus, 35 518, 831 urethral meatus displaced to shaft of TYROSINEMIA, 978 v Tyrosinosis, 978 penis (2nd degree), 173,518,909 Uri dine diphosphate galactose 4' -epimerase Vactel association, 987 deficiency, 357 Vacterl syndrome, 987 Urinary bladder Vagina calculi, 441 atresia of, 544, 578, 857, 860 u dysfunction of, 292 atresia of lower, 984 exstrophy of, 193 "U"-shaped hearing loss, 267 fistula, rectovaginal, 72, 987 large thick, 104 Dberz:lhlige Tr:lnenpunktchcn und-giinge, fistula, vesicovaginal, 571 loss 844 of voluntary control of, 693 mucosa, white folded soft hyperplastic obstruction of Dberzahligc zatme, 936 neck, 264 lesions of, 681 paralysis of, 693, UHL ANOMALY, 979 894 septate, 578, 634, 684 unspecified defect of, Ullrich-Noonan syndrome, 720 755 short, 49, 682, 903 Ullrich syndrome, 720 Urinary system (see parts and Section III, that ends blindly, 682 Ullrich-Turner syndrome, 977 Table XXXV) transverse vaginal septum, 985 Urinary tract Ulna urogenital orifice leading inferiorly to, generalized bowing of, 231 dilatation of, 7 54 173 infection of, 239, 264, 603, bowing of midportion of, 20 943 vaginal orifices paired in perinem;n, 684 obstructive uropathy, defect of, 16,455, 941 192,239, 720 vaginal pouch in perineum, 831 unspecified defect of, 161, 531, dislocation of proximal uh1ar head, 720 VAGINAL ATRESIA, 984 urinary 647 tract calculi, 236, 588 VAGINAL SEPTUM, TRANSVERSE, 985 urogenital sinus in perineum, dorsal dislocation of, 308 578, 831, Valvar aortic stenosis, 80 971 prominent styloid process of, 510 Valve aortique t6tracuspide, 81 short, 19,231,510,685, 791, 875, 923, Urogenital-und Mittelohrfehlbildungcn, 860 Valve pulmonaire t6tracuspide, 840 941,981 Ursprung beider grosser Arterien aus dem Vilvula a6rtica bicllspide, I 08 Ulnar drift syndrome, 980 linken Ventrikel, 581 V:ilvula aOrtica tetracuspldea, 81 ULNAR DRIFT WITH DIGITAL WEBS Ursprung des Pulmonalarterie von dcr Aorta Vilvula pulmonar bicUspidc, I 09 AND CONTRACTURES, 980 ascendens, 767 Vilvula pulmonar tetracuspldca, 840 1182 Index Valvuliire Aortenstenose, 80 vertigo epis6dico y sordera familiar, 248 loss of, 572, 574,575, 577 Valvule aortique bicuspidt\ 108 Vestibular hydrops, 248 low-pitched, I 71, 184, 233, 855, 908 Valvule pulmonaire bicuspicte, 109 Vierklappiges Aortenostium, 81 nasal, 118,270 Van Buchen syndrome, 497 Vierklappiges Pulmonalostium, 840 raucous, 401, 999 VAN DEN BOSCH SYNDROME, 986 Virilization Vomiting (also see Section III, Table VanderWoude syndrome, 177 at puberty, 173 XXXIV) Variaci6n del cerumen (Marcador), 141 female gender with, 498, 902, 908, 971 after 1 mo of age immediately after Variant form of Swiss type agammaglob- male gender with mild, 909 feeding, 193, 4 71 ulinemia, 655 VISCERA, FATTY METAMORPHOSIS, as newborn, 531, 909. 913 Variations dans le cerumen, 141 990 bile-stained, 62, 194,537 Vascular collapse, 24, 829 Visceral malrotation, partial, 92,816 bile stained in early infancy, 300 Vascular malformations of middle ear, 773 Visceromegalie, omphaloceie et macro• hematemesis, 346, 913 Vas deferens and epididymis glossic, I 04 von Gierke disease, 425 blind-ended, 68 Visceromegaly, 104 VON HIPPEL-LINDAU SYNDROME, 995 epididymis rudimentary, 29 Visceromegaly, umbilical hernia and macro• von Rccklinghausen disease, 712 epididymis, tumor of, 711 glossia, 104 VON WILLEBRAND DISEASE, 996 thickened, 529 Vision (see Section III, Table XXIV) Voorhocve disease, 778 Vasopressin-resistant diabetes mellitus, 287 Visual acuity, decreased (also see Blindness) Vordere Nasengangsatresie, 723 Vasopressin-resistenter Diabetes insipidus, at birth, 206,755,867 Vorhofseptum-Defekte, 96 287 hemianopsia, 188 Vrolik disease, 777 VATER ASSOCIATION, 987 in legally blind range, 621 VSR syndrome, 4 70 Vein of Galen aneurysm, 186 in male, 195,925 Vena cava markedly after 4th decade, 449 anomalous right pulmonary vein drain• no improvement with age, 34 ing into inferior, 879 progressive, 70,713, 745,780 w persistence of left superior, 182 rapid deterioration, 550,579 W syndrome, 791 Venous return to heart, anomalous, 401 reduced vision, 32, 350, 763, 764 WAARDENBURG SYNDROME, 997 Ventricular cyst of larynx, 575 sudden loss centrally in 2nd-3rd Wackelkinn, 147 VENTRICULAR DIVERTICULUM, 988 decades, 579 Wandering rash of tongue, 954 Ventricular inversion without transposition of with onset before 1 year, 43, 755 Warfarin embryopathy, 389 great arteries, 541 with onset before puberty, 43, 211, 755 Webbing, popliteal, 818 Ventricular preexcitation, 1002 with onset after 20 years, 209, 211, 253, Weight gain, absent or decreased, 424, l 003 VENTRICULAR SEPTAL DEFECT, 989 925 Weight loss, (also see Inanition, Failure to Ventricular septal defect of the endocardial Visual field thrive, and Malnutrition) cushion defect type, 34 7 concentric narrowing, 810 Weight low by 2SD, 174 Ventricular septal defect with absent pulmon~ constricted, 869,925,983 Weill-Marchesani syndrome, 893 ary valve, 836 defect of, 757,763 Welander type of muscular atrophy, 690 Ventricular septal defect with double outlet hemianopsia, 188 Werdnig-Hoffman disease, 895 right ventricle, 297 Viszeralcr Situs inversus, 888 Wermer syndrome, 350 Ventricule gauche a double issue, 581 Vitamin B 6 Abhiingigkeit, 991 WERNER SYNDROME, 998 Ventrfculo derecho a doble salida con VITAMIN B6 DEPENDENCY, 991 Whistling face syndrome, 223 comunicaci6n interventricular Vitamin B6 dependency with convulsions, White folded dysplasia of mucosa, 681 anterior, 297 991 White forelock without deafness, 31 Ventrlculo derecho a doble salida con VITAMIN B12 MALABSORPTION, 992 White sponge nevus, 681 comunicaci6n interventricular Vitamin-D-abhangige Rachitis (Prader), 873 Wiedemann-Beckwith syndrome, I 04 posterior, 298 Vitamin D-resistant rickets, 517 Wildermuth ear, 330 Ventriculo izquierdo a doble salida, 581 Vitamin K-antagonist embryopathy, 389 Wildervanck syndrome, 142 Ventrikelseptumdefekt, 989 Vitelliform, macular degeneration, 622 WILLIAMS SYNDROME, 999 Verki.irzte Beugesehnen der Finger und Vitelline duct, remnant, 633 Wilson disease, 469 Unterkieferkontraktur, 882 Vitelline macular degeneration, 622 Winchester disease, 1000 Vermelute Ausscheidung dibasischer Vitelliruptive Makuladegeneration, 622 Winchester-Grossman syndrome, 1000 Aminosiiuren, 491 VITILIGO, 993 WINCHESTER SYNDROME, !000 Vertebra, unspecified defect of, 29, 69, Vitium cordis congcnitum, Taubheit und Wing of nostril 101, 157,281,506,554,682,720, Skelett Fehlbildungen, 667 flared, 587, 997 735, 960, 987 Vitreoretinal dysplasia with recessive X• grooved, 728 Vertebral anomalies syndrome, 987 linked inheritance, 721 narrow, 102, 737,875 Vertebral column (also see Section III, Vitreoretinal dystrophy, 871 notched, 281,375,635,967 Table XXIX) Vitreous thickened, 676, 679 anterior curvature (see kyphosis) altered posterior hyaloid membrane, 4 79 Wiskott-Aldrich syndrome, 523 asymmetry of, 887 exudate of, 140 WL SYMPHALANGISM-BRACHDACTYLY cervical spine with block vertebrae, I 03, detachment of, 479 SYNDROME, 1001 142,481,667 floaters in, 870 Wolf syndrome, 164 decreased range of motion of, 89 8 hemorrhage in, 872 WOLFF-PARKINSON-WHITE SYNDROME, decreased rotary motion of, 896 liquefaction of, 4 79 1002 defect of, 680,941 posterior detachment of, 871 WOLMAN DISEASE, I 003 defect of cervical spine, 178 VITREOUS, PERSISENT HYPERPLASTIC Wolmansche Krankheit, 1003 fused, 103, 142,481, 667 PRIMARY, 994 Wrist lateral curvature (see scoliosis) Vogelkopf-Zwerguchs, 881 contracture of, 89 localized widening of, 924 Vogt cephalodactyly, 14 decreased extension of, 89, 121,470,941 progressive decreased range of motion Vohwinkel syndrome, 259 decreased range of motion of, 128, 308 of, 896 Voice (also see Speech) 450,649 rigid, 516,998 high-pitched, 299, 302, 303, 413,438, defect of, 129 short cervical spine, 900 447,744,825 dislocation of, 678 Vertige episodique avec surdite, 248 hoarse, 117, 127, 242, 299, 401, 572, fixed, 1001 Vertigo, 12, 145, 248, 530, 949, 995 573,574, 575,577,598, 599, 949 flexed, 88 Index 1183 increased range of motion of, 90 XERODERMA AND MENTAL RETARDA- Zahnschmelzhypoplasie, Onycholyse und ia