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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.
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  • Esophageal Web in a Down Syndrome Infant—A Rare Case Report

    Esophageal Web in a Down Syndrome Infant—A Rare Case Report

    children Case Report Esophageal Web in a Down Syndrome Infant—A Rare Case Report Nirmala Thomas 1, Roy J. Mukkada 2, Muhammed Jasim Abdul Jalal 3,* and Nisha Narayanankutty 3 1 Department of Pediatrics, VPS Lakeshore Hospital, 682040 Kochi, Kerala, India; [email protected] 2 Department of Gastromedicine, VPS Lakeshore Hospital, 682040 Kochi, Kerala, India; [email protected] 3 Department of Family Medicine, VPS Lakeshore Hospital, 682040 Kochi, Kerala, India; [email protected] * Correspondence: [email protected]; Tel.: +91-954-402-0621 Received: 8 November 2017; Accepted: 8 January 2018; Published: 11 January 2018 Abstract: We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down’s syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature. Keywords: trisomy 21; recurrent vomiting; aspiration pneumonia; esophageal web 1. Introduction In 1866, John Langdon Down described the physical manifestations of the disorder that would later bear his name [1]. Jerome Lejeune demonstrated its association with chromosome 21 in 1959 [1]. It is the most common chromosomal abnormality occurring in humans and it is caused by the presence a third copy of chromosome 21 (trisomy 21). It is associated with multisystem involvement with manifestations that grossly impact the quality of life of the child.
  • Identification of the Finnish Founder Mutation for Diastrophic Dysplasia

    Identification of the Finnish Founder Mutation for Diastrophic Dysplasia

    European Journal of Human Genetics (1999) 7, 664–670 t © 1999 Stockton Press All rights reserved 1018–4813/99 $15.00 http://www.stockton-press.co.uk/ejhg ARTICLE Identification of the Finnish founder mutation for diastrophic dysplasia (DTD) Johanna H¨astbacka1, Anne Kerrebrock2, Kati Mokkala1, Gregory Clines3, Michael Lovett3,4, Ilkka Kaitila5, Albert de la Chapelle6 and Eric S Lander2,7 1Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland 2Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA 3McDermott Center and 4Department of Biochemistry, University of Texas Southwestern Medical Center at Dallas, Texas, USA 5Department of Clinical Genetics, Helsinki University Central Hospital, Finland 6Division of Human Cancer Genetics, Ohio State University, Columbus, Ohio, USA 7Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA Diastrophic dysplasia (DTD) is especially prevalent in Finland and the existence of a founder mutation has been previously inferred from the fact that 95% of Finnish DTD chromosomes have a rare ancestral haplotype found in only 4% of Finnish control chromosomes. Here we report the identification of the Finnish founder mutation as a GT– > GC transition (c.–26 + 2T > C) in the splice donor site of a previously undescribed 5'-untranslated exon of the diastrophic dysplasia sulfate transporter gene (DTDST); the mutation acts by severely reducing mRNA levels. Among 84 DTD families in Finland, patients carried two copies of the mutation in 69 families, one copy in 14 families, and no copies in one family. Roughly 90% of Finnish DTD chromosomes thus carry the splice-site mutation, which we have designated DTDSTFin. Unexpectedly, we found that nine of the DTD chromosomes having the apparently ancestral haplotype did not carry DTDSTFin, but rather two other mutations.