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Home , Agnathia, Cockayne syndrome, Dubowitz syndrome, EEM syndrome, Goldenhar syndrome, Macrostomia

Index

A Acrodysostosis, 527, 538 Aarskog syndrome, 527, 537 Acrofacial dysostosis 1, 580–581 differentiated from Opitz G/BBB Acrofacial dysplasia, 563 syndrome, 458 Acro-fronto-facio-nasal dysostosis Aase-Smith syndrome, 527 syndrome, 527, 538–539 Aase syndrome, 527, 537 Acromegaloid facial appearance Abducens nerve. See Cranial nerve VI syndrome, 527, 539 Abduction, Möbius sequence-related Acromegaloid phenotype-cutis verticis impairment of, 197, 198 gyrata-cornea leukoma, 527, 539 Abetalipoproteinemia, 527, 537 Acromesomelic dysplasia, Maroteaux- Ablepharon- syndrome, Martinelli-Campailla type, 527, 527, 538 539 Abortion, spontaneous, chromosomal Acromicric dysplasia, 527, 539 abnormalities associated with, 83 Acro-osteolysis syndrome, 565 Abruzzo-Erickson syndrome, 527, 538 Acro-reno-ocular syndrome, 527, Acanthosis, 607 539 Acanthosis nigricans, Crouzon Acyclovir, 504, 505, 518 syndrome-related, 169 Adam complex, 207–209 Physician-parent interactions, Adams-Oliver syndrome, 527, 540 69–70 Adduction, Möbius sequence-related Acetyl-coenzyme A deficiency, 364 impairment of, 197, 198 N-Acetylcystine, 321 Adenoma sebaceum, tuberous sclerosis N-Acetyl galactosamine-4-sulfatase complex-related, 304, 308–309 deficiency, 366 Adrenocorticotropic hormone, 433 N-Acetyl galactosamine-6-sulfatase Aging, premature. See also deficiency, 357, 365 --related, 320 a-N-Acetyl glucosaminidase acetyl Aglossia-adactyly syndrome, 584–585 transferase deficiency, 357 -holoprosencephaly, 54 a-N-Acetyl glucosaminidase deficiency, Aicardi’s syndrome, 178, 430–434, 527, 357, 364 540 Acid sphingomyelinase deficiency, clinical assessment of, 431–433 379 clinical features of, 430–431 Acrocallosal syndrome, 527, 538 etiology of, 430 Schnizel type, 527 genetic factors in, 433 Acrocephalopolydactylous dysplasia, prognosis for, 434 527, 538 systemic associations of, 431–433 Acrocephalopolysyndactyly treatment of, 433–434 type 2, 168 Alagille syndrome, 527 type 3, 590–591 Albers-Schonberg disease type 4, 564 (osteopetrosis), 271–272

611 612 index

Albinism, 249–252, 393–399 , 527, 554 definition of, 249, 393 oculocutaneous albinism ocular, 249–251, 393, 394, 397 associated with, 459, 461 Nettleship-Falls type of, 394, Angiogenesis, retinal, 27–28 397 Angiography, fluorescein, use in oculocutaneous (OCA), 393, craniosynostosis evaluation, 158 394–397 Angioid streaks, pseudoxanthoma Angelman syndrome-related, elasticum-related, 228 459, 461 corporis diffusum “brown,” 396 universale, 386 Prader-Willi syndrome-related, Angiomas, facial, Sturge-Weber 459, 461 syndrome-related, 322, 324, 325, type 1, 394–395 326–327 type 2, 394, 395–396, 396 Angiomatosis retinae, 311 type 3, 394 Angiomyolipomas, vascular, tuberous tyrosinase-negative, 249 sclerosis complex-related, 309, 311 Albright hereditary osteodystrophy, Angio-osteohypertrophy syndrome, 527, 540 527, 572 Alcohol-related birth defects (ARBD), Angiosarcomas, Aicardi’s syndrome- 188 related, 433 Alkaptonuria, 252, 253 Aniridia Alopecia ocular anomalies associated with, Hallermann-Streiff syndrome- 36 related, 192 Wilms’ tumor-related, 148 syphilis-related, 492–493 Aniridia-cerebellar ataxia-mental Alport’s syndrome, 434–437 deficiency, 563 Alström’s syndrome, 437–439 Barbara, Anisometropia be sure in text the dots are over the o craniosynostosis-related, 161 in alstrom’s Goldenhar’s syndrome-related, Amacrine cells, 26 184–185 Amantadine, as ataxia-telangiectasia Ankyloblepharon-- treatment, 321 clefting syndrome, 527, 566 Amaurosis, Leber’s congenital, 36, Anophthalmia, 33 573 amniotic band sequence-related, differentiated from Alström’s 208–209 syndrome, 438 Goldenhar’s syndrome-related, 185 Amblyopia with limb anomalies, 528, 540 Brachmann-de Lange syndrome- Anterior segment dysgenesis, 46, 47–48 related, 440, 442 fetal alcohol syndrome-related, craniosynostosis-related, 158, 161 189, 190 Goldenhar’s syndrome-related, microphthalmia-related, 33 184–185, 185 ocular albinism-related, 399 -related, 235 ocular anomalies associated with, toxocariasis-related, 495, 497 33, 34, 36 Amniotic band syndrome, 207–209 as Rieger’s anomaly, 36, 48 Amniotic rupture sequence, 207–209 Antihelminthic therapy, for Amniotic sac, premature rupture of, toxocariasis, 496–497 207–209 Antley-Bixler syndrome, 528, 540–541 Amoxicillin, 489 Anus, ectopic or imperforated, 458 Anencephaly (exencephaly), 54 , 162, 164–167, 169, definition of, 607 527, 528, 541 , definition of, 83, 85 , 607 Aneuploidy syndromes, 119–121 Apraxia, ocular motor, 318, 320 index 613

AP-2 factor, 16 Awareness, in physician-parent Aqueous humor, production of, 22 interactions, 69 Arachnodactyly, 607 Axenfeld-Rieger anomalies, 528 Marfan syndrome-related, 233 with atrial septal defect and Argyria, 607 sensorineural loss, 542 Arhinencephaly, 607 autosomal dominant Arteriohepatic dysplasia, 528, 541 iridogoniodysgenesis, 34 Arteriovenous malformations with partially absent eye muscles, Klippel-Trenaunay syndrome- 542 related, 330 Axenfeld’s anomaly, 47 Wyburn-Mason syndrome-related, albinism-related, 399 331–332, 333–334 Arthritis, Lyme disease-related, 488, B 489 Bacterial diseases Arthrochalasia multiplex congenital, cat-scratch disease, 483–486 559 Lyme disease, 486–489 Arthrogryposis, 607 syphilis, 489–493 Arthro-ophthalmopathy, hereditary, Baller-Gerold syndrome, 542–543 progressive, Stickler type, 528, Banding, chromosomal, 79–80, 87 596–597 Bannayan-Riley-Ruvalcaba syndrome, Arylsulfatase A deficiency, 377 543 Arylsulfatase A , 377–378 Bardet-Biedl syndrome, 437–438, 543 Ascorbic acid, as alkaptonuria differentiated from Cohen treatment, 253 syndrome, 239 Ashkenazi Jews Barkan’s membrane, 48 Niemann-Pick disease in, 380 persistence of, 23 Tay-Sachs disease in, 368 Bartonella henselae, as cat-scratch Ash-leaf spots, tuberous sclerosis disease cause, 483, 484, 485, 486 complex-related, 309 Basal cell syndrome, 34 Asphyxiating thoracic dystrophy, 528, Bathocephaly, 607 570 Batten disease. See Neuronal ceroid- Association, definition of, 147, 148 lipofuscinosis Astigmatism Batten-Spielmeyer-Vogt disease, 391 Goldenhar’s syndrome-related, 186 BBB syndrome, 456 mandibulofacial dysostosis-related, Beals’ syndrome, 543–544 180 Beckwith-Wiedemann syndrome, 544 Astrocytomas, giant cell, 307, 310 Berardinelli-lipodystrophy syndrome, Ataxia, ataxia-telangiectasia-related, 544 320, 321 Berman’s syndrome, 594 Ataxia-telangiectasia, 318–321, 528, Bernheimer-Seitberger disease, 563 542 Beta-glucuronidase deficiency, 580 etiology of, 318 Birds, embryonic development in, 10 ophthalmologic features of, Blastocysts, 1, 2 318–320 Bleeding diatheses, Hermansky-Pudlak treatment of, 321 syndrome-related, 396–397 Atresia, choanal, CHARGE association- Blepharitis, Brachmann-de Lange related, 148 syndrome-related, 440, 442 Atrioventricular blocks, Lyme disease- Blepharoconjunctivitis, related, 488 virus-related, 502 ATR-X syndrome, 528 Blepharo-nasofacial syndrome, 173 Auditory canal, hyperostosis of, 340 Blepharophimosis, 39 Autosomal dominant disorders, 77 Blepharophimosis syndrome, 544–545 Autosomal recessive disorders, 77 Blepharoptosis, 87 614 index

Blindness. See also Visual loss/ periventricular, lymphocytic impairment choriomeningitis virus-related, Crouzon syndrome-related, 169 506 reconstructive facial surgery- Campomelic dysplasia, 546 related, 163–164 Camptodactyly, 607 referrals and information resources oculo-dento-osseous dysplasia- regarding, 72 related, 270 toxocariasis-related, 493 Camurati-Engelmann syndrome, 546 Bloch-Sulzberger syndrome. See Cancer referrals and information resources BMP4 gene, 15 regarding, 71 Bone marrow transplantation relationship with syndromes, 148 as Gaucher’s disease treatment, Canthal distances, measurement of, 383 152, 153–154 as Krabbe’s disease treatment, 386 Cardiac-limb syndrome, 566 Borjeson-Forssman-Lehmann syndrome, Cardio-facio-cutaneous syndrome, 546 545 , infantile, Alström Borrelia burgdorferi, as Lyme disease syndrome-related, 438 cause, 486, 487–488 Carpal tunnel syndrome, 361, 362, 366 Borreliosis, Lyme. See Lyme disease , 168–169, 527, 546 Boston-type craniosynostosis, 545 Bourneville’s disease, 304 Alström syndrome-related, 438 Bowman’s capsule, 21 anterior polar, 19, 20, 21 Brachmann-de Lange syndrome, 439– branchio-oculo-facial syndrome- 442, 545 related, 443 clinical features of, 440–442 chondrodysplasia punctata-related, treatment of, 442 246 Brachycephaly, 156, 607 -related, 453 Carpenter’s syndrome-related, 168 Cohen syndrome-related, 240 , embryonic development of, 5, 8, craniosynostosis-related, 162 9, 10 galactosemic, 410–411 Brain tumors, tuberous sclerosis genetic factors in, 37 complex-related, 309 glaucoma-related, 37 Branchial arch anomalies, 186 Klippel-Trenaunay syndrome- Branchio-oculo-facial syndrome, 442– related, 328 446, 545–546 Marfan syndrome-related, 236 Branchio-oto-renal (BOR) syndrome, 34, microphthalmia-related, 33 446, 577 Morquio syndrome-related, 366 Breastfeeding, syphilis transmission nonocular anomalies associated during, 490 with, 35 Brittle-cornea syndrome, 230, 232 oculo-dento-osseous dysplasia- related, 271 C Prader-Willi syndrome-related, 459 Café au lait spots rubella-related, 511 neurofibromatosis type 1-related, sunflower, Wilson’s disease-related, 294, 298 352 treatment of, 299 syphilis-related, 490 Watson syndrome-related, 299 uridine diphosphate galactose-4’ Caffey pseudo-Hurler syndrome, epimerase (GALE) deficiency- 561–562 related, 412 Calcification Waardenburg syndrome-related, intracerebral, toxoplasmosis- 203 related, 506 Cat-eye syndrome, 34, 448, 450, 547 index 615

Cats Niemann-Pick disease-related, as Toxocara catis host, 494 379–380, 381 as Toxoplasma gondii host, 498 Chickenpox, 514 Cat-scratch disease, 483–486 Child abuse Ceftriaxone, 489 as herpes zoster risk factor, 515 Central anomalies as syphilis transmission method, CHARGE association-related, 490 205–206, 449–450 Choanal atresia, 35 fetal alcohol syndrome-related, CHARGE association-related, 188 205–206 -related, Chondrodysplasia punctata, 244–246 183, 184 X-linked, 548 Central retinal occlusion, Fabry’s Choriocapillaris, 24 disease-related, 388 Chorioretinal lacunae, Aicardi’s Ceramide accumulation, in Farber syndrome-related, 431, 432 disease, 389 Chorioretinitis, cat-scratch disease- Cerebellar parenchymal disorder, related, 483, 484 570–571 Choristomas, 42 , Sturge-Weber epibulbar, 260 syndrome-related calcification of, 326 Choroid Cerebral gigantism syndrome, 595 colobomas of, 33, 36, 38–39, 41 Cerebral palsy, referrals and embryonic development of, 23–24 information resources regarding, Choroidal fissure, 12 71–72 Choroidal skip lesions, 41 Cerebro-ocular-muscular dystrophy Choroiditis (COMS) syndrome, 469, 470 Lyme disease-related, 487 Cerebro-oculo-facio-skeletal (COFS) syphilis-related, 490–491 syndrome, 547 Choroid plexus, Aicardi’s syndrome- Ceruloplasmin, Wilson’s disease-related related papillomas of, 431, 433–434 deficiency of, 353 Chromosomal analysis Cervical spine anomalies for diagnosis of chromosomal Apert syndrome-related, 164–165 abnormalities, 87 hemifacial microsomia-related, 183 indications for, 90 Cervico-oculo-acoustic syndrome Chromosomal anomalies, 76–145, 147 (Wildervanck syndrome), 199–202, aneuploidy syndromes, 119–121 547 basic concepts of, 76–90 Chalazia, Brachmann-de Lange definition of, 78 syndrome-related, 442 deletional syndromes, 96–108 Chancres, 492 duplication syndromes, 108–119 CHARGE association, 34, 147, etiology of, 78–79, 83 205–206, 446–450, 547–548 syndromes, 95–96 referrals and information resources nomenclature system for, 87 regarding, 72 prenatal diagnosis of, 90 Chediak-Higashi syndrome, 249 tetraploidy, 120 Cheney syndrome, 565 triploidy, 119–120 Cherry-red spots banding, 79–80, 87 Farber disease-related, 390 gangliosidoses-related, 371, 372, breakage of, 84 373, 375, 376 classification of, 79–80, 82 metabolic disorders-related, 370, number of, 76–77 371 in chromosomal abnormalities, metachromatic - 82–83 related, 376 normal, 80, 82 616 index

Chromosomes (Continued) Cohen syndrome, 239–240, 550 visualization of, 79, 80 Collagen, 48 Chronic illness, referrals and Colobomas, 33, 36–42 information resources regarding, 72 in association with chromosomal Ciliary body abnormalities, 87–89 colobomas of, 37 branchio-oculo-facial syndrome- embryonic development of, 22–23 related, 445 rubella-related hypoplasia of, CHARGE association-related, 148, 511–512 205, 446, 447, 448 Ciprofloxacin, 486 choroid, 33, 36, 38–39, 41, 88 Clarity, in physician-parent of the ciliary body, 37 interactions, 69 of the eyelid, 36, 51–52 Claw- deformity, 361 amniotic band sequence- Clear cell carcinoma, renal, 316 related, 208–209 Cleft Goldenhar’s syndrome-related, branchio-oculo-facial syndrome- 185 related, 446 mandibulofacial dysostosis- ectodermal dysplasia-related, 264 related, 180 frontonasal dysplasia-related, 175 Treacher Collins syndrome- hemifacial microsomia-related, related, 150–151 183 of the globe, amniotic band hypotelorism-related, 177 sequence-related, 208–209 Cleft lip/, oculo-dento-osseous Goldenhar’s syndrome-related, 44, dysplasia-related, 269, 271 45 Cleft lip sequence, 549 of the iris, 33, 36–37, 38–39, 41, Cleft palate 87–88 Apert syndrome-related, 166 branchio-oculo-facial branchio-oculo-facial syndrome- syndrome-related, 444 related, 446 CHARGE association-related, ectodermal dysplasia-related, 264 447, 448 hemifacial microsomia-related, 183 craniosynostosis-related, 162 Kniest dysplasia-related, 242 holoprosencephaly-related, mandibulofacial dysostosis-related, 178 179 “lens,” 37 Pierre Robin syndrome-related, 147 of the lens, tuberous sclerosis Stickler syndrome-related, 240–241 complex-related, 307 Clefts, facial macular, 33, 36 amniotic band sequence-related, mandibulofacial dysostosis-related, 208–209 180 CHARGE association-related, 446 microphthalmia associated with, Cleidocranial dysostosis, 549 13, 33, 38–39 , 607 ocular anomalies associated with, Clouston’s syndrome, 549 33, 34, 36 Cochlear implants, for of the , 33, 36, 38–39, neurofibromatosis type 2 patients, 40, 41 304 Aicardi’s syndrome-related, Cockayne, Edward Alfred, 257 432, 433 Cockayne syndrome, 257–259, 450– orbital or eyelid cysts associated 453, 549 with, 36 Coenzyme Q10, as ataxia-telangiectasia prevalence of, 88 treatment, 321 retinal, 88 Coffin-Lowry syndrome, 549 uveal, 87 Coffin-Siris syndrome, 549–550 atypical, 37 index 617

Colobomas (Continued) edema of, Lyme disease-related, frontonasal dysplasia-related, 487 176 transparency of, 22 Compassion, in physician-parent Corneal , 20 interactions, 69 Corneal exposure COMS (cerebro-ocular-muscular craniosynostosis-related, 158, 159, dystrophy) syndrome, 469, 470 163 Cones, embryonic development of, Pfeiffer’s syndrome-related, 167 26–27 Corneal haze/opacity Congenital anomalies Fabry’s disease-related, 387 craniofacial. See Craniofacial Hurler-Scheie syndrome-related, syndromes and malformations 362 definition of, 146 Hurler syndrome-related, 360–361 Congenital heart defects Maroteaux-Lamy syndrome-related, CHARGE association-related, 148, 367 446, 448 Morquio syndrome-related, Kabuki make-up syndrome-related, 365–366 456 Niemann-Pick disease-related, 380 Conjunctivitis rubella-related, 511 Lyme disease-related, 489 Scheie syndrome-related, 361 measles-related, 507, 508 Cornea plana, 46 rubella-related, 510 Cornelia de Lange syndrome. See syphilis-related, 490–491 Brachmann-de Lange syndrome Connective tissue disorders, 227–248 Coronal synostosis, 157 chondrodysplasia punctata, 244–246 Aicardi’s syndrome-related absence Cohen syndrome, 239–240 of, 430 Ehlers-Danos syndrome, 230–233 Opitz G/BBB syndrome-related homocystinuria, 246–248 absence of, 458 Kniest dysplasia, 242–244 Corticosteroids Marfan syndrome, 233–236 as herpes simplex ocular infection osteogenesis imperfecta, 236–238 cause, 504 , as toxocariasis treatment, 496 227–230 CP49 lens , 16 Stickler syndrome, 240–242 CP95 lens protein, 16 Weill-Marchesani syndrome, Cranial nerve(s), palsies of 238–239 Lyme disease-related, 487, 488 Conradi-Hunermann disease, 244–245, syphilis-related, 490–491 246 Cranial nerve III, palsies of Consideration, in physician-parent Lyme disease-related, 487 interactions, 68 Möbius sequence-related, 197 Copper disorders, 350–355 Cranial nerve IV, Lyme disease-related Menkes’ disease, 350, 353–355 palsies of, 487 Wilson’s disease, 350–353 Cranial nerve V Copper replacement therapy, for Lyme disease-related palsies of, Menkes’ disease, 355 487 Corectopia, 49 nevus flammeus of, 322, 326 Cornea in oculodermal melanocytosis, Alport’s syndrome-related disorders 261 of, 436 Cranial nerve VI, palsies of angiogenesis inhibition in, 28 Lyme disease-related, 487 anomalies of, Crouzon syndrome- Möbius sequence-related, 195, 196, related, 169 197 618 index

Cranial nerve VII, palsies of Waardenburg syndrome, 173, 174, Lyme disease-related, 487 202–205, 602 Möbius sequence-related, 195 Wildervanck syndrome, 199–202, Cranial sutures, premature closure of. 547 See Craniosynostosis Craniofrontonasal dysplasia, 550 Craniofacial syndromes and Craniometaphyseal dysplasia, 550 malformations, 51–52, 146–226 Craniosynostosis, 151, 155–170 amniotic band syndrome, 207–209 Apert syndrome, 162, 164–167, CHARGE association, 205–206 169, 527, 528, 541 craniosynostosis, 155–170 Boston-type, 545 Apert syndrome, 162, 164–167, Carpenter syndrome, 168–169, 527, 169, 527, 528, 541 546 Carpenter syndrome, 168–169, coronal synostosis, 157 527, 546 Crouzon syndrome, 159, 160, 161, coronal synostosis, 157 162, 169–170, 550–551 Crouzon syndrome, 159, 160, definition of, 607 161, 162, 169–170, 550–551 ocular findings in, 157–162 ocular findings in, 157–162 oxycephaly, 156–157 oxycephaly, 156–157 pathogenesis of, 163 pathogenesis of, 163 Pfeiffer’s syndrome, 167–168, 527, Pfeiffer’s syndrome, 167–168, 587 527, 587 reconstructive surgical treatment recurrence risk of, 163 of, 162, 163 sagittal synostosis, 157 ocular complications of, deformation syndromes, 206–207 163–164 disruption syndromes, 207 recurrence risk of, 163 etiology of, 149 sagittal synostosis, 157 fetal alcohol syndrome, 53, Craniosynostosis-foot defects, 570 147–151, 187–191 Jackson-Weiss type, 570 frontonasal dysplasia, 175–177 Crouzon syndrome, 159, 160, 161, 162, Hallerman-Streiff syndrome, 169–170, 550–551 191–194 Cryptophthalmos, 45, 46 holoprosencephaly, 36, 52–54, complete, 44, 45 177–179, 188, 449, 608 incomplete, Goldenhar’s syndrome- information resources about, related, 44, 45 211–212 Cryptophthalmos syndrome, 560–561 mandibular dysostosis, 179–182 Cryptorchidism Möbius syndrome, 195–199, 578 CHARGE association-related, Nager syndrome (preaxial 449 acrofacial dysostosis), 182 Cockayne syndrome-related, 453 new, identification of, 148–149 Rubinstein-Taybi syndrome- ocular anomalies associated with, related, 467 149–151 Crystallins, 19 oculo-auriculo-vertebral spectrum, Cutis marmorata, definition of, 607 182–186 Cutis marmorata telangiectasia, 328, ophthalmologic examination of, 330 151–155 Cyclin-dependent kinase inhibitor plagiocephaly, 170–174 protein, 50 prototypes of, 155 , 36, 37, 52 psychosocial considerations in, chromosomal aberrations 210–212 associated with, 90 recurring patterns of, 149 Cystathionine b-synthase deficiency, terminology of, 146–151 246–247, 406 index 619

Cystinosis, 402–406 11q, 527, 553 nephropathic, 402–403 13q, 84, 103–104, 527, 553–554 nonnephropathic, 402 14q, 104 Cysts 15q, 105, 527, 554 arachnoid, 431, 455 16q, 105 Dandy-Walker, 431 18q, 527, 554–555 epididymal, 312, 316 22q, 108 of the eyelid, 33, 40, 42 Deoxyribonucleic acid (DNA), 76 hemangiomatous orbital, 443, 446 arrangement and structure of, 76, orbital, 33, 39 77–78 pancreatic, 312, 316 translocation of, 85–87 renal, 312, 316 Deoxyribonucleic acid (DNA) probes, Cytomegalovirus infections, 506 80, 81, 82 Dermoids, 42–43 D epibulbar, 37 Dacryostitis, craniosynostosis-related, Goldenhar’s syndrome-related, 162, 164 183, 185, 186 Dandy-Walker syndrome Wildervanck syndrome-related, Aicardi’s syndrome-related, 431 199 definition of, 607 limbal, 43 Walker-Warburg syndrome-related, Goldenhar’s syndrome-related, 469 44, 45 Deafness-myopia--saddle nose, Dermolipomas, 43–44 576 Goldenhar’s syndrome-related, 44, Deformation, definition of, 147 45 Deformation syndromes, 206–207 Desbuquois syndrome, 573 De Grouchy syndrome, 554–555 Descemet’s membrane, 22, 351 Deletions, chromosomal, 77 absence of, 47 syndromes Developmental delay etiology of, 84–85 Aicardi’s syndrome-related, 434, 3p, 97, 527, 551 437 4p, 527, 551–552 Sturge-Weber syndrome-related, 5p, 527 326 6p, 99 Developmental field, definition of, 147 7p, 99 Diabetes mellitus 8p, 100–101 Alström syndrome-related, 438 9p, 101, 527, 552–553 congenital rubella-related, 513 10p, 101 maternal, as holoprosencephaly 11p, 102, 553 cause, 177 12p, 103 Diagnosis, of child’s disability, parental 17p, 105–106 response to, 62–75 18p, 527 grieving process, 66–67 19p, 107 physician’s role in, 68–71 20p, 107–108 resources and referrals for, 71–75 4p (Wolf-Hirschhorn syndrome), 97 DiGeorge syndrome, 448, 555 1q, 96 CHARGE association-related, 449 2q, 96–97, 527, 551 Diploidy, 77 3q, 97 Disease, definition of, 147 4q, 97–98, 527, 552 Disruption, definition of, 147 5q, 552 Disruption syndromes, 207 6q, 99 Distal arthrogryposis syndrome, 555 7q, 99–100 Distichiasis- syndrome, 10q, 101 555 620 index

Distichiasis syndrome, 555 q11, 118 Dogs, as Toxocara canis host, 494, 496 12q, 115 Dolichocephaly, 446 13q, 115 Donohue’s syndrome, 574 14q, 116 L-Dopa, 321 15q, 116, 557 ( 21), 94–95, 16q, 117 600 17q2, 117 chromosomal analysis of, 82–83 18q, 118 Robertsonian translocations in, 85, 22q, 119 87 19q (de Grouchy syndrome), 118 Doxycycline, 489 Dwarfism , ataxia-telangiectasia-related, bird-headed, 592 320, 321 cachetic, 451 Drualt’s bundle, 29–30 Cockayne syndrome-related, 257 Drusen, Alström syndrome-related, 438 geleophysic, 563 Duane/radial dysplasia syndrome, 556 Hunter’s syndrome-related, 363 Duane’s syndrome, 151 Hurler syndrome-related, 358 frontonasal dysplasia-related, 176 Lenz-Majewski hyperostotic, Goldenhar’s syndrome-related, 573–574 184–185, 185 metatropic, 572 Möbius syndrome and, 197 metatropic II, 572 Wildervanck syndrome-related, Morquio syndrome-related, 365 199, 200 Mulibrey type, 580 , 556 Peters’ anomaly-related, 586–587 Duplications, chromosomal, 77 syndrome, partial (partial trisomy), 85 557 Duplication syndromes Dysmorphic sialidosis syndrome, 579 2p, 109 Dysmorphology, definition of, 146 3p, 109 Dysplasia 4p, 110, 556 acrocephalopolydactylous, 527, 5p, 110 538 6p, 111 acrofacial, 563 7p, 111–112 acromicric, 527, 539 8p, 112 craniofrontonasal, 550 9p, 113, 556–557 craniometaphyseal, 550 10p, 113–114 facio-oculo-auriculo-vertebral. See 11p, 114 Goldenhar’s syndrome 12p, 115 frontometaphyseal, 561 16p, 116–117 frontonasal, 54–55, 175–177, 458 17p, 117 differentiated from Opitz 18p, 118 G/BBB syndrome, 458 20p, 118–119 retinal, 50 1q, 108 septo-optic, 35, 592–593 2q, 109 skeletal, 269–272 3q, 109–110, 527, 556 oculo-dento-osseous, 269–271 4q, 110 osteopetrosis (Albers- 5q, 110–111 Schonberg disease), 271–272 6q, 111 Dystrophia myotonica syndrome, 7q, 112 596 8q, 112–113 Dystrophy, muscular 9q, 113 Fukuyama congenital, 470 10q, 114, 527, 557 Walker-Warburg syndrome-related, 11q, 114–115 470 index 621

E Embryological development, 1–32 Ear anomalies of the brain, 5, 8, 9, 10 branchio-oculo-facial syndrome- differentiation of germ layers and related, 443, 446 embryogenesis, 1–6 CHARGE association-related, 148, neural crest development, 6–7 447, 449 somites, 7 Goldenhar’s syndrome-related, 184, of the eye 185, 186 choroid and sclera, 23–24 hemifacial microsomia-related, 183 cornea and anterior chamber, Treacher Collins syndrome-related, 20–22 150–151 disorders of. See Ocular Wildervanck syndrome-related, 199 dysgenesis, syndromes of , 1, 2, 3, 5 extraocular muscles, 14, 15, 32 neural, 9, 10–11 eyelids, 15, 18, 29, 32 Ectodermal dysplasia, 264–266 iridocorneal angle, 23 Ectodermal dysplasia-- iris and ciliary body, 22–23 macular dystrophy (EEM) syndrome, lens, 9, 10, 11, 12, 15–20 266 ocular tissue, 7 Ectodermal dysplasia syndrome, optic fissure, 12–15, 17 hyperhydrotic, 568–569 optic nerve, 12, 23–24, 30–32 Ectopia lentis optic sulci, 4, 5, 6, 8, 9, 10 Crouzon syndrome-related, 169 optic vesicle and optic cup, 7, homocystinuria-related, 407–409 8–15, 22, 23, 26 Marfan syndrome-related, 233 , 12–13, 16, 24–28 simple, 594 somites, 5, 8 Weill-Marchesani syndrome- tunica vasculosa lentis, 19–20 related, 238–239 vitreous, 17, 29–30 Ectopia lentis et pupillae, 49, 557–558 Embryonal carcinoma, Aicardi’s Ectrodactyly, 607 syndrome-related, 433 ectodermal dysplasia-related, 264 Embryonic fissure, 12 Ectrodactyly-ectodermal dysplasia- Embryotoxon, posterior, 47 clefting (EEC) syndrome, 264–265, , 54 558 basal, optic nerve coloboma- Ectropion, - related, 36 related, 263 Walker-Warburg syndrome-related, Ectropion uvea, 42, 50 469–470 Edema Encephalofacial angiomatosis corneal, Lyme disease-related, 487 syndrome, 597 disc, syphilis-related, 490–491 Endoderm, 1, 2, 3 macular, cat-scratch disease- Endothelin-3 gene (EDNRB) , related, 484, 485 204 EEC (ectrodactyly-ectodermal Endothelium, corneal, 22 dysplasia-clefting) syndrome, 264–265 , Cockayne syndrome- EEM (ectodermal dysplasia- related, 258 ectrodactyly-macular dystrophy) Enzymatic deficiencies, 77 syndrome, 266 Ependymonas, neurofibromatosis type Ehlers-Danos syndrome, 230–233, 2-related, 302 558–559 Epiblast, 1, 2 blue sclerae associated with, 238 Epicanthus types of, 230–233 chromosomal abnormalities- Electroretinography, in Aicardi’s related, 87 syndrome, 432 fetal alcohol syndrome-related, “Elephant Man,” 339, 462 188, 189–190 622 index

Epicanthus (Continued) optic fissure, 12–15, 17 Möbius syndrome-related, 198 optic nerve, 12, 23–24, 30–32 Opitz G/BBB syndrome-related, optic sulci, 4, 5, 6, 8, 9, 10 456–457 optic vesicle and optic cup, 7, Epidermolytic , 254 8–15, 22, 23, 26 Epilepsy. See also retina, 12–13, 16, 24–28 tuberous sclerosis complex-related, somites, 5, 8 304 tunica vasculosa lentis, 19–20 Episcleritis vitreous, 17, 29–30 Lyme disease-related, 489 Eyelashes, loss of, 265 syphilis-related, 490–491 Eyelids. See Lids Erythema migrans, Lyme disease- Eye movement disorders. See Motility related, 488 disorders, ocular , 268–269 Escobar syndrome, 559 F Esophagus Fabry’s disease, 386–389 CHARGE association-related , measurements of, 152, 153 atresia of, 449–450 Facial anomalies, 51–52 Opitz G/BBB syndrome-related Brachmann-de Lange syndrome- defects of, 457 related, 440, 441 Esotropia branchio-oculo-facial syndrome- craniosynostosis-related, 162 related, 443, 444, 446 Marfan syndrome-related, 235 Cockayne syndrome-related, 257 Möbius syndrome-related, 197, Hurler syndrome-related, 358, 359, 198–199 360 Exencephaly (anencephaly), 54 Kabuki make-up syndrome-related, definition of, 607 454, 455 Exophthalmos, measurement of, 152 Kniest dysplasia-related, 242 Exorbitism. See Proptosis Möbius syndrome-related, 196 Exotropia Morquio syndrome-related, 365 craniosynostosis-related, 160, 162 oculo-dento-osseous dysplasia- frontonasal dysplasia-related, 175, related, 269 176 Opitz G/BBB syndrome-related, -related, 174 456–457 Marfan syndrome-related, 235 Prader-Willi syndrome-related, 459, Extraocular muscles 460, 461 craniosynostosis-related Rubinstein-Taybi syndrome- abnormalities of, 162 related, 465, 466 embryonic development of, 14, 15, Facial diplegia. See Möbius syndrome 32 Facial palsy Eye, brain, and face malformation CHARGE association-related, complexes, 51–52 447 Eye, embryonic development of, 8–32 Möbius syndrome-related, 195 choroid and sclera, 23–24 Facial sutures, premature closure of, cornea and anterior chamber, 157, 163 20–22 Facio-oculo-auriculo-vertebral disorders of. See Ocular dysgenesis, dysplasia. See Goldenhar’s syndrome syndromes of , Opitz G/BBB extraocular muscles, 14, 15, 32 syndrome-related, 457–458 iridocorneal angle, 23 Familial neurovisceral lipidosis, iris and ciliary body, 22–23 561–562 lens, 9, 10, 11, 12, 15–20 Fanconi pancytopenia syndrome, ocular tissue, 7 559–560 index 623

Farber disease, 389–390 Morquio syndrome-related cherry-red spots associated with, abnormalities of, 366 371 peau d’orange appearance of, 228, Femoral hypoplasia-unusual facies 229 syndrome, 560 peripheral pigmentation of, Fetal akinesia sequence, 586 ichythyosis-related, 254 Fetal alcohol effects (FAE), 187–188 Funduscopic examination, in Fetal alcohol syndrome (FAS), 53, 147, craniofacial syndrome patients, 151 151, 187–191 a-Fetoprotein, as ataxia telangiectasia G marker, 320 Galactokinase (GALK) deficiency, 411 FG syndrome, 560 Galactose, 409 Fibrillin, in Marfan syndrome, 233, 235 Galactosemia, 409–412 Fibroblast growth factor (FGF), 19 Galactose-1-phosphate uridyltransferase Fibroblast growth factor receptor- (GALT) deficiency, 409–411 related craniosynostosis syndromes, Galactosialidosis, 371 166, 168, 169, 170, 173 a-Galactosidase deficiency, 365 Fibronectin, 7, 21–22 a-Galactosidase A deficiency, 386–387, Filensin, 19 388–389 Fistulas, tracheoesophageal, 449, 457 b-Galactosidase deficiency, 357, 369, Fluorescent in situ hybridization 372 (FISH), 80, 81, 82, 85 Galactosylceramidase deficiency, 385 , 259–260, 564 Galactosyl sulfatide, 377 Folinic acid, as toxoplasmosis GALE (uridine diphosphate galactose-4’ treatment, 500 epimerase) deficiency, 411–412 , embryonic development of, GALK (galactokinase) deficiency, 411 5, 8, 9, 10 GALT (galactose-1-phosphate Forelock, white, Waardenburg uridyltransferase) deficiency, 409–411 syndrome-related, 203 Gametes, 78 Fovea developmental errors in, 78–79 in albinism, 396, 398 Gangliosidoses, 368–375, 561–562

embryonic development of, 27 GM1, 368, 369, 370–372 FoxE3 gene, 16 adult/chronic, 372 , 560 infantile, 369, 370 Francheschetti-Zwahlen-Klein juvenile type, 562 syndrome, 179, 598. See also late infantile/juvenile, 369, Treacher Collins syndrome 370–372

François dyscephalic syndrome, GM2, 368, 369, 372–375 191–194, 565–566 acute infantile (Tay-Sachs , 560–561 disease), 372–373 Freeman-Sheldon syndrome, 561 Bernheimer-Seitberger disease Frontometaphyseal dysplasia, 561 (type III), 563 Frontonasal dysplasia, 175–177 chronic, 375 differentiated from Opitz G/BBB infantile, Sandhoff variant of, syndrome, 458 373 Frontonasal dysplasia sequence, 561 Sandhoff disease (type II), Frontonasal syndrome, 561 562–563 Fucosidosis, 371 subacute, 373, 375 Fundus Tay-Sachs disease (type I), 562 albinism-related hypopigmentation anomalies, of, 398 CHARGE association-related, 449 craniosynostosis-related , 1, 2–3 pigmentary changes, 162 Gaucher cells, 382, 383 624 index

Gaucher’s disease, 371, 381–385 neurofibromatosis type 1-related, type 2 (acute neuronopathic), 382, 295, 299 384 ocular anomalies associated with, type 1 (chronic nonneuronopathic), 33, 34, 36 382, 383–384 open-angle, Hurler-Scheie type 3 (subacute neuronopathic), syndrome-related, 363 382, 384–385 Prader-Willi syndrome-related, 459 Geleophysic dysplasia, 563 pupillary block, cystinosis-related, Gene, definition of, 76 405 Genee-Wiedemann syndrome, 577–578 rubella-related, 511, 513 Genetic heterogeneity, 79 Rubinstein-Taybi syndrome- Genetic syndromes, with ophthalmic related, 467 features, 430–482 Scheie syndrome-related, 362 Aicardi’s syndrome, 430–434 Sturge-Weber syndrome-related, Alport’s syndrome, 434–437 324, 325, 327 Alström syndrome, 437–439 Gliomas Brachmann-de Lange syndrome, neurofibromatosis type 2-related, 439–442 302 branchio-oculo-facial syndrome, of the optic nerve, 442–446 neurofibromatosis type 1-related, CHARGE association syndrome, 295, 296, 297, 299 446–450 Globe Cockayne syndrome, 257–259, colobomas of, 208–209 450–453, 549 rupture of, 230, 233 glossary of terms related to, Glossary, of terms associated with 607–608 inherited diseases, 607–608 Kabuki make-up syndrome, 454– , Pierre Robin syndrome- 456, 571 related, 147 Opitz G/BBB syndrome, 456–458 a-Glucosaminide-N-acetyltransferase Prader-Willi syndrome, 459–462 deficiency, 364 , 462–465 b-Glucuronidase deficiency, 357, 367, Rubinstein-Taybi syndrome, 465– 580 468 Goldenhar-Gorlin syndrome. See Walker-Warburg syndrome, 468– Goldenhar’s syndrome 471 Goldenhar’s syndrome, 36, 44, 45, Gentamicin, 486 563–564 Gillespie syndrome, 563 as hemifacial microsomia variant, Glaucoma 182–186 congenital, 48–49 relationship with anterior segment dysgenesis- frontonasal dysplasia, 176 related, 47 Wildervanck syndrome, Barkan’s membrane in, 23 200–201 syphilis-related, 490 Goltz-Gorlin syndrome, 259–260, 564 Crouzon syndrome-related, 169 Goltz syndrome, 564 Hallermann-Streiff syndrome- Gonadotropin deficiency, CHARGE related, 194 association-related, 449 homocystinuria-related, 408 Goodman syndrome, 527, 564 Hunter’s syndrome-related, 363 Gorlin’s syndrome, 564–565 Klippel-Trenaunay syndrome- Granulocytopenia, Cohen syndrome- related, 328 related, 239, 240 Marfan syndrome-related, 235 Granulomas, ocular Maroteaux-Lamy syndrome-related, cat-scratch disease-related, 484 367 toxocariasis-related, 494 index 625

Greig cephalopolydactyly syndrome, Cockayne syndrome-related, 257, 545 453 Grönblad-Strandberg syndrome. See hemifacial microsomia-related, Pseudoxanthoma elasticum 183 Growth factors, in lens differentiation, Hunter’s syndrome-related, 363 19 KID syndrome-related, 254 deficiency, Alström osteopetrosis-related, 272 syndrome-related, 438–439 referrals and information resources Growth retardation regarding, 72 ataxia-telangiectasia-related, 320 rubella-related, 506 Cockayne syndrome-related, 451, Stickler syndrome-related, 240 452 Treacher Collins syndrome-related, Kabuki make-up syndrome-related, 150–151 454, 455 Waardenburg syndrome-related, G syndrome, 456 203, 204 Gynecomastia, Alström syndrome- Wildervanck syndrome-related, related, 438 199, 200 xeroderma pigmentosum-related, H 262 anomalies. See also Alopecia Hemangioblastomas, von Hippel- focal dermal hypoplasia-related, Lindau disease-related, 311, 312, 313, 259 314, 315, 317 Menkes’ disease-related, 353–354 Hemangiomas premature graying, 446 choroidal, Sturge-Weber syndrome- Hajdu-Cheney syndrome, 565 related, 322, 324, 327 Hallermann-Streiff syndrome, 191–194, neurofibromatosis type 2-related, 565–566 302 Hamartomas, 291 palatal, Aicardi’s syndrome-related, of the , 308, 433 309, 310 racemose, 331 glial, tuberous sclerosis complex- Hematuria, Alport’s syndrome-related, related, 305 434 melanocytic, of the iris, 292 Hemifacial microsomia, 182–186 neurofibromatosis type 1-related, Hemorrhage, vitreous, 484 292 Heparan N-sulfatase deficiency, 364 neurofibromatosis type 2-related, Hepatoblastomas, Aicardi’s syndrome- 301 related, 433 retinal Hermansky-Pudlak syndrome (HPS), astrocytic, 295 249, 250, 394, 396–397 neurofibromatosis type 2- Herpes simplex virus, 483, 501–505 related, 301 Herpes zoster ophthalmicus, 514, 515, tuberous sclerosis complex- 517, 518 related, 305 Herpes zoster virus, 514–515 “Happy puppet syndrome,” 554 Heterochromia HARD+/-E syndrome, 469 Klippel-Trenaunay syndrome- Hay-Wells syndrome of ectodermal related, 328 dysplasia, 566 Sturge-Weber syndrome-related, Head shape, in craniosynostosis, 325 155–157 Waardenburg syndrome-related, 203 Alport’s syndrome-related, 435 Heterozygosity, 77 CHARGE association-related, Hexosaminidase A deficiency, 369, 373, 205–206, 449 375 626 index

Hexosaminidase B deficiency, 369, 373, Hypertelorism, 173–177 375 amniotic band sequence-related, High-resolution banding, of 208–209 chromosomes, 80 Apert syndrome-related, 165–166 Hindbrain, embryonic development of, Brachmann-de Lange syndrome- 5, 8 related, 440 Hirschsprung disease, 202 branchio-oculo-facial syndrome- Holoprosencephaly, 36, 52–54, 177–179 related, 443, 444 CHARGE association-related, 449 chromosomal abnormalities- definition of, 608 related, 87 fetal alcohol syndrome-related, 188 frontonasal dysplasia-related, Holt-Oram syndrome, 566 175–176 Homocystinuria, 246–248, 406–409, Opitz G/BBB syndrome-related, 566–567 456–457 Homozygosity, 77 Hordeola, Brachmann-de Lange Alport’s syndrome-related, 435 syndrome-related, 440 pheochromocytoma-related, 297, Horizontal gaze, Gaucher’s disease- 299 related disorder of, 384 stenosis-related, 297, Hox , 149 299 Hunter’s syndrome, 567 Hyperthermia, as Möbius syndrome Hurler-Scheie syndrome, 568 cause, 198 Hurler syndrome, 567–568 Hypertrichosis, mucopolysaccharidoses- Hutchinson-Gilford syndrome, 587 related, 355 Hutchinson’s triad, 492 Hyphema, juvenile xanthogranuloma- in syphilis, 492 related, 267 Hyaloid vasculature, embryonic Hypoblast, 1, 2 development of, 13, 14, 15, 17, 24, Hypochondroplasia, 568 25 Hypodactyly, 608 Hyaluronic acid, 20, 21 Hypogonadism Hydrocephalus CHARGE association-related, 449 Aicardi’s syndrome-related, 433– Prader-Willi syndrome-related, 461 434 Hypohidrotic ectodermal dysplasia Crouzon syndrome-related, 169 syndrome, 568–569 Hunter’s syndrome-related, 363 Hypomelanosis of Ito, 256, 569 lymphocytic choriomeningitis Hypophosphatasia, 569 virus-related, 506 Hypopigmentation Maroteaux-Lamy syndrome-related, cutaneous, ocular albinism-related, 366, 367 398 neurofibromatosis type 1-related, fundal, 398 295 of the hair, 396 referrals and information resources retinal, albinism-related, 393 regarding, 72–73 Waardenburg syndrome-related, tuberous sclerosis complex-related, 204 310 Hypoplasia, mandibular, 147 Walker-Warburg syndrome-related, Hypospadius, CHARGE association- 468 related, 449 Hyoid artery, 12 Hypotelorism, 177 anatomy of, 13, 19, 27 , neonatal, 338 embryonic and regression of, 27, 30 I embryonic development of, 13, ibonucleic acid (RNA), structure of, 77 19–20, 21, 27, 30 , 253–255 index 627

Ichythyosiform erythroderma, 254 Iridocorneal angle Ichythyosis in congenital glaucoma, 49 lamellar, 254, 255 maturation of, 47–48 X-linked, 254–255 Iridocorneal endothelial syndromes, 48 Ichythyosis vulgaris, 254–255 Iridocyclitis, rubella-related, 511–512 a-L-Iduronidase deficiency, 358, 361, Iridodonesis, Marfan syndrome-related, 362 234 Incontinentia pigmenti, 255–257, Iris 569–570 albinism-related transparency of, Incontinentia pigmentosa achromians, 397–398 569 colobomas of, 33, 36–37, 38–39, Infectious diseases, 483–525 87–88 bacterial diseases, 483–493 craniosynostosis-related, 162 cat scratch disease, 483–486 Crouzon syndrome-related Lyme disease, 483, 486–489 anomalies of, 169 syphilis, 483, 489–493 embryonic development of, 22–23 parasitic diseases, 493–501 heterochromia of, Waardenburg toxocariasis, 493–497 syndrome-related, 203 toxoplasmosis, 483, 497–501 hypopigmentation of, 393, 395–396 viral diseases, 501–518 hypoplasia of, 35 cytomegalovirus, 483 sectoral pigmentation of, tuberous herpes simplex virus, 501–505 sclerosis complex-related, 305, lymphocytic choriomeningitis 307 virus, 483, 505–507 Iris dilator muscle, hypoplasia of, measles, 507–510 511–512 rubella, 483, 510–513 Iris roseolae, syphilis-related, 490–491 varicella-zoster, 513–518 Isotretinoin, teratogenicity of, 180 Inherited diseases, 526–608. See also Genetic syndromes, with ophthalmic J features Jackson-Weiss syndrome, 570 alternative names for, 526–536 Jansky-Bielschowsky disease, 391, 392 ocular and systemic findings in, Jarcho-Levin syndrome, 570 537–606 Jeune thoracic dystrophy, 570 Interphalangeal joints, Kniest dysplasia- Johanson-Blizzard syndrome, 570 related enlargement of, 242, 243 Joint hyperextensibility, Ehlers-Danos Interpupillary distance, measurement syndrome-related, 231, 232 of, 152, 153–155 Joint laxity and dislocation, Kabuki Intestines, CHARGE association- make-up syndrome-related, 454 related anomalies of, 449 Joubert syndrome, 570–571 Intracranial pressure, craniosynostosis- Juvenile xanthogranuloma, 266–268 related increase in, 158 Intraocular pressure (IOP) K assessment of, in craniofacial Kabuki make-up syndrome, 454–456, anomalies, 152 571 congenital glaucoma-related Karyotyping, 79, 80, 81, 82 increase of, 48 Kasabach-Merritt syndrome, 330–331 fetal, 12–13 Kayser-Fleischer rings, 351, 352, 353 inhibition of, 33 Keratan sulfates, corneal, 22 herpes simplex virus-related Keratitis increase of, 503 herpes simplex virus-related, 502, Intrauterine growth retardation, 503, 504, 505 CHARGE association-related, 449– interstitial, syphilis-related, 492 450 Lyme disease-related, 487, 489 628 index

Keratitis (Continued) Lawrence-Moon-Bardet-Biedl syndrome, measles-related, 508 543 syphilis-related, 492 referrals and information resources Keratitis, ichythosis, and deafness (KID) regarding, 73 syndrome, 254, 571 L-dopa, 321 Keratoconus, 37 Learning disabilities, neurofibromatosis craniosynostosis-related, 162 type 1-related, 298 Crouzon syndrome-related, 169 Leber’s congenital amaurosis, 36, 573 Keratopathy, cystinosis-related, 403– differentiated from Alström 404 syndrome, 438 KID (keratitis, ichythosis, and deafness) Lens syndrome, 254, 571 embryonic development of, 9, 10, Killian/Teschler-Nicola syndrome, 11, 12, 15–20 571–572 Fabry’s disease-related opacity of, Klinefelter’s syndrome, 121 388 chromosomal analysis of, 82–83 homocystinuria-related dislocation Klippel-Feil syndrome of, 407–408 definition of, 608 subluxation of hemifacial microsomia-related, 183 homocystinuria-related, 246, Wildervanck syndrome-related, 199 247, 248 Klippel-Trenaunay-Weber syndrome, Marfan syndrome-related, 328–331, 572 233–234 Kniest dysplasia, 242–244, 572 Lens bow, 18 Known genesis syndrome, 149 Lens nucleus, 16, 17, 18, 19 Koplik spots, 509 Lens placode, 1, 5, 9, 10, 11, 12 Krabbe’s disease, 385–386 Lenticonus cherry-red spots associated with, anterior, 19 371 bilateral anterior, Alport’s Kufs’ disease, 391, 393 syndrome-related, 435–436 Kyphoscoliosis posterior, 19 Alström syndrome-related, 438– Alport’s syndrome-related, 439 435–436 neurofibromatosis type 1-related, Walker-Warburg syndrome- 299–300 related, 469 Lenz-Majewski hyperostotic dwarfism, L 573–574 Lacrimal puncta, location of, 152 Leopard syndrome, 580 Lacrimal system Leprechaunism, 574 craniosynostosis-related Leroy I-cell syndrome, 579 dysfunction of, 162, 164 Leukocaria, toxocariasis-related, 494– postoperative dysfunction of, 164 495 Lacrimation, paradoxical, 199 Leukodystrophy, metachromatic, Lacrimo-auriculo-dento-digital 375–378 syndrome, 574 adult-onset, 377 Lamina cribosa, in optic nerve cherry-red spots associated with, myelinization, 31–32 371 Langer-Giedion syndrome, 572–573 Leukomas, corneal, 208 Larsen’s syndrome, 573 Levator muscle, in midface Larval migrans, visceral, 496 reconstructive surgery, 164 Laser therapy Levy-Hollister syndrome, 574 for retinal hemangioblastoma, 317 Lid notching, Treacher Collins for vascular facial angiofibromas, syndrome-related, 150–151 311 Lid retraction, proptosis-related, 159 index 629

Lids Malformation, definition of, 146 colobomas of, 36, 51–52 cysts of, 40, 42, 44 hypoplastic, 191–192 embryonic development of, 15, 18, mandibulofacial dysostosis-related 29, 32 abnormalities of, 179–180 Lindau, Arvid, 311 Mandibulofacial dysostosis. See Linear nevus sebaceous, 260–261 Treacher Collins syndrome Linear nevus sebaceous of Jadassohn, Marden-Walker syndrome, 575 574–575 Marfanoid body habitus, multiple Lipodermoids, conjunctival, 183, 184, endocrine neoplasia type 2B-related, 185, 186 335, 336, 337–338 Lipodystrophy, partial, with Rieger Marfan syndrome, 233–236, 575–576 anomaly, 575 differentiated from Lipogranulomatosis, disseminated, 389 homocystinuria, 246, 248 Lipomas, Aicardi’s syndrome-related, referrals and information resources 433 regarding, 73 Lisch nodules, 292, 294–295 Marginal bundle of Drualt, 29–30 Lissencephaly Marker X syndrome, 560 unilateral, Aicardi’s syndrome- Maroteaux-Lamy syndrome, 576 related, 431 Marshall-Smith syndrome, 576 Walker-Warburg syndrome-related, Marshall syndrome, 576 468, 469 relationship with Stickler Livedo reticularis, 407 syndrome, 576, 596 Liver disease, Wilson’s disease-related, Martin-Bell syndrome, 560 351, 352 Measles, 507–510 Lobster-claw hand deformity, 265 MEB (muscle-eye-brain) syndrome, 469, Lowe syndrome, 583 470 Low-vision aids, for albinism patients, Median face cleft syndrome. See 399 Frontonasal dysplasia Lyme disease, 486–489 Megacolon, aganglionic, 202 Lymphadenopathy Megalocornea cat scratch disease-related, 483, Hurler syndrome-related, 361 485 Marfan syndrome-related, 234 Lyme disease-related, 488 rubella-related, 510 development of chromosomal syphilis-related, 492 abnormalities during, 83 Lymphocytic choriomeningitis virus, process of, 78 505–507 , 393–394 Lysyl hydroxylase deficiency, 230, 232 Melanocyte differentiation anomaly, 204 M Melanocytes, 393–394 Macrocephaly, lymphocytic Melanocytosis, oculodermal, 261–262 choriomeningitis virus-related, 506 Melanoma, xeroderma pigmentosum- Macrocephaly-Ehlers-Danos VI related, 261–262, 263, 264 phenotype, 230 Melanosis Macromelanosomes, 251 conjunctival, xeroderma Macrostomia, hemifacial microsomia- pigmentosum-related, 263 related, 183 ocular cutaneous, Sturge-Weber Macula syndrome-related, 326 edema of, cat-scratch disease- Melnick-Fraser syndrome, 577 related, 484, 485 Melnick-Needles osteodysplasty, 577 toxocariasis-related injury to, 495 Membrane , 19 Madarosis, 265 Mendelian inheritance, 78 630 index

Meningeal tumors, neurofibromatosis Fabry’s disease, 386–389 type 2-related, 300 Farber disease, 389–390 Meningiomas, neurofibromatosis type gangliosidoses, 368–375

2-related, 302 GM1, 368, 369, 370–372, 562

Meningitis GM2, 368, 369, 372–375, Lyme disease-related, 488 562–563 syphilis-related, 492–493 Gaucher’s disease, 381–385 Menkes’ disease, 350, 353–355 type 1 (chronic Mental retardation nonneuronopathic), 382, Apert syndrome-related, 165 383–384 Brachmann-de Lange syndrome- type 3 (subacute related, 441–442 neuronopathic), 382, Carpenter’s syndrome-related, 168 384–385 CHARGE association-related, type 2 (acute neuronopathic), 205–206, 449 382, 384 chromosomal abnormalities- Krabbe’s disease, 385–386 related, 90 metachromatic leukodystrophy, fetal alcohol syndrome-related, 375–378 188, 189 mucopolysaccharidoses, 355–367 Hallermann-Streiff syndrome- Hunter syndrome, 355, 356, related, 192 358, 363–364, 567 homocystinuria-related, 407, 408– Hurler-Scheie syndrome, 356, 409 362–363, 568 Hurler syndrome-related, 360 Hurler syndrome, 355, 356, Kabuki make-up syndrome-related, 358–361, 567–568 455 Maroteaux-Lamy syndrome, neurofibromatosis type 1-related, 357, 366–367 298 Morquio syndrome, 357, Prader-Willi syndrome-related, 461 365–366 Proteus syndrome-related, 340, 341 Sanfilippo syndrome, 356, Rubinstein-Taybi syndrome- 364–365, 591 related, 465 Scheie syndrome, 356, Sanfilippo syndrome-related, 364 361–362 tuberous sclerosis complex-related, Sly syndrome, 357, 367 304, 310 neuronal ceroid-lipofuscinoses, tyrosinemia-related, 401 390–393 xeroderma pigmentosum-related, Jansky-Bielschowsky disease, 263 391, 392 Merlin, 301 Kufs’ disease, 391, 393 Merrick, John, 339, 462 Santavuori-Haltia disease, 391, Mesenchyme, 8, 13, 14, 15 392 corneal, 21 Spielmeyer-Sjögren disease, neural crest cell-derived, 21 391, 392–393 , 1, 2, 3, 7, 8 Niemann-Pick disease, 379–381 of Schlemm’s canal, 23 type(s) A and B, 379–380 Metabolic diseases, 350–429 type C, 380–381 cystinosis, 402–406 tyrosinemia, 399–401 nephropathic, 402–403 oculocutaneous, 400–401 nonnephropathic, 402 Metachromatic leukodystrophy, disorders of copper metabolism, 375–378 350–355 Metaphysis, 608 Menkes’ disease, 350, 353–355 Wilson’s disease, 350–353 Cockayne syndrome-related, 451 index 631

Microcephaly (Continued) hypoplasia lymphocytic choriomeningitis Apert syndrome-related, 164, virus-related, 506 165 tyrosinemia-related, 401 craniosynostosis-related, 157 Micrognathia, 608 Crouzon syndrome-related, 160 Pierre Robin syndrome-related, Treacher Collins syndrome- 147 related, 150–151 Microgyria, Aicardi’s syndrome-related, Miller-Dieker lissencephaly syndrome, 431 578 Microphthalmia, 33 Miller syndrome, 577–578 amniotic band sequence-related, Misoprostol, as Möbius syndrome 208–209 cause, 197, 198 branchio-oculo-facial syndrome- Mitochondrial inheritance, 78 related, 443, 445 Mitosis CHARGE association-related, 448 arrest of, 79–80 chromosomal anomalies- process of, 78 associated, 87 Mitral valve disease, Marfan syndrome- colobomatous, 13, 33, 38–39, 40 related, 236 chromosomal anomalies Mitral valve prolapse, Stickler associated with, 89 syndrome-related, 242 with eyelid cyst syndrome, 40, Möbius syndrome, 195–199, 578 42 Mohr syndrome, 578 definition of, 87 Monosomy frontonasal dysplasia-related, 176 definition of, 83 Hallermann-Streiff syndrome- partial, 84–85, 87 related, 193–194, 194 Monosomy, 21–22, 95–96 linear defects syndrome- Monosomy, 22, 96 related, 577 Monosomy X. See Turner’s syndrome noncolobomatous, 33 Morquio syndrome, 578, 579 ocular anomalies associated with, Morula, 1 33, 34, 36 Mosaicism, 79 Waardenburg syndrome-related, diagnosis of, 83–84 203 Motility disorders, ocular, Walker-Warburg syndrome-related, craniosynotosis-associated, 158 469 Motility evaluation, in craniofacial Microphthalmia-associated anomaly patients, 152 gene mutations, Msx2 transcription factor, 12 204 Mucolipidoses Microsomia type I, subtypes I and II, 579 facial, 185 type II, 579 hemifacial, 182–186 type III, 588 Microspherophakia type IV, 594 Marfan syndrome-related, 234 Mucopolysaccharidoses (MPS), 355–367 Weill-Marchesani syndrome- Hunter syndrome (MPS II), 355, related, 238–239 356, 358, 363–364, 567 Microtia, Treacher Collins syndrome- Hurler-Scheie syndrome (MPS related, 150–151 IH/S), 356, 362–363, 568 Midas syndrome, 577 Hurler syndrome (MPS IH), 355, Midbrain, embryonic development of, 356, 358–361, 567–568 5, 8 Maroteaux-Lamy syndrome (MPS Midface anomalies VI), 357, 366–367, 576 craniosynostosis-related, 160 Morquio syndrome (MPS IV), 357, surgical reconstruction of, 162 365–366, 579 632 index

Mucopolysaccharidoses (MPS) N (Continued) Naevus variqueux osteohypertrophique, Sanfilippo syndrome (MPS III), 356, 328 364–365, 591 Nager syndrome (preaxial acrofacial Scheie syndrome (MPS IS), 356, dysostosis), 182, 580–581 361–362, 591 anomalies Sly syndrome (MPS VII), 357, 367, focal dermal hypoplasia-related, 580 259 Mucosal neuroma syndrome. See Rubinstein-Taybi syndrome- Multiple endocrine neoplasia (MEN) related, 467 type 2B Nail patella, 34, 581 Mucosulfatidosis, 378 Nasal placodes, conjoined, 52, 53, 54 Mueller cells, 26 Nasolacrimal ducts. See also Lacrimal Mulberry lesions, 305 system Mulibrey nanism syndrome, 580 Brachmann-de Lange syndrome- Multifactorial inheritance, 78 related obstruction of, 440 Multiple endocrine neoplasia (MEN) branchio-oculo-facial syndrome- type 2B, 291, 335–339 related anomalies of, 443 clinical assessment of, 335–337 , webbed, Wildervanck syndrome- ophthalmologic features of, 335 related, 200 systemic associations of, 337–338 Nematode infections, ocular, 493–497 Multiple lentigines syndrome, 580 Nephritis, hereditary, Alport’s Multiple pterygium syndrome, 559 syndrome-related, 434 Multiple sulfatase deficiency (MSD), Nerve fibers 378 medullated, craniosynostosis- Multiple synostosis syndrome, 580 related, 162 Muscle-eye-brain (MEB) syndrome, 469, Nestin, 19 470 Neural crest, as ocular tissue source, 7, Muscular dystrophy 8, 10 Fukuyama congenital, 470 Neural crest cells, 8 Walker-Warburg syndrome-related, in anterior segment dysgenesis, 47 470 Neural folds, 3, 4, 7 Mutations Neural plate, 3, 4, 7 single, 78 Neural tube, 3, 4, 7 types of, 78 Neurites, retinal, 26 Mycoplasma pneumoniae infections, Neurocristopathie, ocular, 47 268 Neurocutaneous syndromes, 291–343 Myelin, metachromatic ataxia-telangiectasia, 318–321, 528, leukodystrophy-related degeneration 542 of, 375–376 Klippel-Trenaunay-Weber Myelinization, of the optic nerve, syndrome, 328–331, 572 31–32 multiple endocrine neoplasia type Myocarditis, Lyme disease-related, 488 2B, 291, 335–339 Myoinositol, 321 neurofibromatosis Myopia type 1, 291–300 Brachmann-de Lange syndrome- type 2, 300–304 related, 440, 442 Proteus syndrome, 291, 339–342 branchio-oculo-facial syndrome- Sturge-Weber syndrome, 322–327 related, 443 tuberous sclerosis complex, Cohen syndrome-related, 239 304–311 Gaucher’s disease-related, 385 von Hippel-Lindau disease, homocystinuria-related, 408 311–318 Prader-Willi syndrome-related, 459 Wyburn-Mason syndrome, 331–334 index 633

Neurofibromas Nevoid basal cell carcinoma syndrome, neurofibromatosis type 1-related, 564–565 295, 298, 299 Nevus flammeus (facial angiomas), neurofibromatosis type 2-related, Sturge-Weber syndrome-related, 322, 302 324, 325, 326–327 Neurofibromatosis Nevus of Jadahsson, 260 referrals and information resources Nevus of Ota, 261–262 regarding, 73 Nevus sebaceous of Jadassohn, 260–261 type 1, 291–300, 581–582 NF1 gene mutations, 291–292, 300 clinical assessment of, Niemann-Pick disease, cherry-red spots 297–298 associated with, 371 diagnostic criteria for, 298 Night blindness, Cohen syndrome- etiology of, 291–292 related, 239 genetic factors in, 297, 299, Niikawa-Kuroki syndrome. See Kabuki 300 make-up syndrome natural history of, 299 , 583 prognosis for, 300 overlap with neurofibromatosis systemic associations of, type 1, 298 298–299 Norrie’s disease, 583 treatment of, 299–300 Nose type 2, 300–304, 582–583 bifid, frontonasal dysplasia-related, clinical assessment of, 175 301–302 Rubinstein-Taybi syndrome-related diagnostic criteria for, 303 deformity, 465, 466, 467 etiology of, 301 Nucleotides, 77 genetic factors in, 303 ophthalmologic features of, albinism-related, 251 301 Alström syndrome-related, 437 systemic associations of, Cockayne syndrome-related, 258 302–303 metachromatic leukodystrophy- treatment of, 303 related, 377 Neuromas acoustic, 300 O mucosal/oral, 335, 336, 338, 339 Obesity, Prader-Willi syndrome-related, plexiform, 295, 296, 297 460, 462 subconjunctival, 337 Occipital horn syndrome, 559 Neuronal ceroid-lipofuscinosis (Batten Ochronosis, 252–253 disease), 371, 390–393 Ocular dysgenesis, syndromes of, Jansky-Bielschowsky disease, 391, 33–55 392 anterior segment dysgenesis, 47–48 Kufs’ disease, 391, 393 coloboma, 33, 36–42 Santavuori-Haltia disease, 391, 392 congenital glaucoma, 48–49 Spielmeyer-Sjögren disease, 391, cornea plana, 46 392–393 cryptophthalmos, 44–46 -specific enolase, 23 cyclopia, 36, 37, 52 Neuroretina, maldevelopment of, in dermoids and dermolipomas, 42–44 Proteus syndrome, 464 , 54 Neuroretinitis exencephaly (anencephaly), 54 cat-scratch disease-related, 483, eye, brain, and face malformation 484, 485 complexes, 51–52 syphilis-related, 490–491 frontonasal dysplasia, 54–55 toxoplasmosis-related, 498 holoprosencephaly, 52–54 Neurosyphilis, 491, 493 microphthalmia, 33 634 index

Ocular dysgenesis, syndromes of colobomas of, 33, 36, 38–39, 40, 41 (Continued) Aicardi’s syndrome-related, persistent hyperplastic primary 432 vitreous, 50 in craniosynostosis, 158 pupillary anomalies, 49–50 drusen of, Alström syndrome- retinal dysplasia, 50 related, 438 sclerocornea, 46–47 embryonic development of, 12, synophthalmia, 52 23–24, 30–32 Ocular muscles granulomas of, cat-scratch disease- in Apert syndrome, 170 related, 484 in Crouzon syndrome, 170 hemangioblastomas of, von Hippel- Oculo-auriculo-vertebral spectrum, Lindau disease-related, 314 182–186 Lyme disease-related disorders of, Oculocerebrorenal syndrome, 583 487 Oculodentodigital syndrome, 584 myelinization of, 31 Oculo-dento-osseous dysplasia, 269–271 in neurofibromatosis type 1, 294 Oculodermal melanocytosis, 261–262 in Sturge-Weber syndrome, Oculomandibulodyscephaly, 191–194 324–325 OFD syndrome, 584 Optic nerve fibers, albinism-related Omphaloceles, 608 abnormalities of, 398–399 Onychoosteodysplasia, 581 Optic stalk, 12, 13, 20 Ophthalmic artery, fetal, 27 Optic sulci, embryonic development of, Opitz-Frias syndrome, 584 4, 5, 6, 8, 9, 10 Opitz G/BBB syndrome, 456–458 Optic vesicle Opitz syndrome, types I and II, 584 in colobomatous microphthalmia, Optic atrophy 33 Aicardi’s syndrome-related, 433– embryonic development of, 8–12 434 Optiz-Kaveggia FG syndrome, 560 craniosynostosis-related, 158 Oral-facial-digital syndrome, 584 Crouzon syndrome-related, 169 Orbit incontinentia pigmenti-related, asymmetry of, 152 256–257 craniosynostosis-related dystopia Lyme disease-related, 489 of, 157 metachromatic leukodystrophy- hypertelorism of, 173–177 related, 376–377 Klippel-Trenaunay syndrome- Sanfilippo syndrome-related, 365 related malformations of, 328 separation of, measurement of, 155 edema of, neurofibromatosis type shallow, Carpenter’s syndrome- 1-related, 296 related, 168 embryonic development of, 7, Oromandibular-limb hypogenesis 10–12, 22, 23, 26 (OMLH) spectrum, 195, 584–585 fetal alcohol syndrome-related Osteodystrophy, Albright hereditary, abnormalities of, 190 527 Optic fissure Osteogenesis imperfecta, 148, 236–238, closure defects of. See also 585 Colobomas Osteopetrosis (Albers-Schonberg dermoids as, 42–43 disease), 271–272 failed or late closure, 33 embryonic development of, 12–13, Gaucher’s disease-related, 383 15 homocystinuria-related, 406 Optic nerve Menkes’ disease-related, 354 Aicardi’s syndrome-related Otitis media, Kabuki make-up anomalies of, 431, 432 syndrome-related, 455 index 635

Oto-palato-digital syndrome, 585 , 599 Oxycephaly, 156–157, 608 Pathology and Diagnosis and , effect on retinal angiogenesis, Treatment of Neuroma (Smith), 291 28 PAX6 gene, 12, 15, 16 PAX3 gene mutations, 203–204 P Pena-Shokeir syndrome, 586 syndrome, 585 Penicillamine, as Wilson’s disease Pallister-Hall syndrome, 586 treatment, 353 Pallister-Killian syndrome, 571–572 Penicillin, as syphilis treatment, 493 Palpebral fissures Penta X syndrome, 605 amniotic band sequence-related Perheentupa syndrome, 580 abnormalities of, 208–209 Pericarditis, Lyme disease-related, 488 in chromosomal abnormalities, 87 Pericytes, 28 downward slanting Perinatal lethal hypophosphatasia, 569 Hallermann-Streiff syndrome- Peripheral nerve tumors, related, 194 neurofibromatosis type 2-related, Opitz G/BBB syndrome- 302–303 related, 456–457 Persistent hyperplastic vitreous (PHPV), Rubinstein-Taybi syndrome- 30, 50 related, 465, 466 microphthalmia-associated, 33 fetal alcohol syndrome-related Peters’ anomaly, 34, 46, 47, 586–587 abnormalities of, 188, 189 Walker-Warburg syndrome-related, Kabuki make-up syndrome-related 469 elongation of, 454, 455 Peters’-Plus syndrome, 587 measurement of, 152 Pfeiffer’s syndrome, 167–168, 527, obliquity of, 152 587 Pancreatic tumors, von Hippel-Lindau P gene mutations, 251 disease-related, 317–318 Phakinin, 19 Papilledema Phenotype, determination of, 79 craniosynostosis-related, 151, 158 Phenotypic spectrum, 148 Lyme disease-related, 487, 488 Pheochromocytomas Maroteaux-Lamy syndrome-related, as hypertension cause, 297, 299 367 multiple endocrine neoplasia type Sanfilippo syndrome-related, 365 2B-related, 335, 337, 339 Papillitis, Lyme disease-related, 487 von Hippel-Lindau disease-related, Papillomas 312, 315, 316, 317–318 of the choroid plexus, 431, 433–434 Philtrum, fetal alcohol syndrome- focal dermal hypoplasia-related, related flattening of, 188 259 Photodermatitis, Cockayne syndrome- Parasitic diseases, 493–501 related, 257 toxocariasis, 493–497 Photophobia toxoplasmosis, 497–501 albinism-related, 251, 395 Parents Alström syndrome-related, 437 of children with craniofacial Brachmann-de Lange syndrome- malformations, 210–211 related, 440 response to diagnosis of child’s Rubinstein-Taybi syndrome- disability, 62–75 related, 465 grieving process, 66–67 xeroderma pigmentosum-related, physician’s role in, 68–71 262 resources and referrals for, Phytanic acid storage (Refsum) disease, 71–75 254 Parinaud’s oculoglandular syndrome, Pica, 496 483, 484 Pierre Robin syndrome, 147, 241 636 index

PITX2 homeobox transcription factor, Proteinuria, Alport’s syndrome-related, 48 434 Plagiocephaly, 156, 170–173 Proteus syndrome, 291, 339–342, 462– deformational, 170, 207 465, 587–588 frontal-type, 170, 172–173 Pruritus, neurofibroma-related, 299 synostotic, 171, 172 Pseudobular palsy, 351 Platelet-derived growth factor, 19 Pseudocleft lip, branchio-oculo-facial Pleomorphic lamellar bodies, 373, 375 syndrome-related, 443, 444, 446 Point mutations, 78 Pseudo-Hurler Polydystrophy Poland anomaly, 195–196 syndrome, 588 , 195–196 Pseudohypertelorism, 152 Polycoria, 49–50 Pseudopolycoria, 50 Polycystic kidney disease, 311 Pseudotumor cerebri, galactokinase Polycythemia, von Hippel-Lindau (GALT) deficiency-related, 411 disease-related, 316 Pseudoxanthoma elasticum, 227–230 Polydactyly genetic factors in, 227–230 Alström syndrome-related, 438 management of, 229–230 Carpenter syndrome-related, 168 Psychiatric disorders, homocystinuria- definition of, 608 related, 407 Rubinstein-Taybi syndrome- Pterygoid muscles, mandibulofacial related, 467 dysostosis-related abnormalities of, Polymicrogyria, fetal alcohol syndrome- 179–180 related, 188 Ptosis Polysyndactyly, ectrodactyly- Apert syndrome-related, 165–166 ectodermal dysplasia-clefting (EEC) branchio-oculo-facial syndrome- syndrome-related, 264 related, 443 Port-wine stains (facial angiomas), Carpenter syndrome-related, 168 Sturge-Weber syndrome-related, 322, fetal alcohol syndrome-related, 324, 325, 326–327 187, 189–190 Postaxial acrofacial dysostosis, 577–578 mandibulofacial dysostosis-related, Posterior polymorphous dystrophy, 48 180 Prader-Labhart-Willi syndrome, 459 Opitz G/BBB syndrome-related, Prader-Willi syndrome, 459–462 457 oculocutaneous albinism Waardenburg syndrome-related, associated with, 249, 459, 461 203 Preaxial acrofacial dysostosis (Nager Ptosis surgery, secondary, after midface syndrome), 182, 580–581 surgery, 164 , alcohol abuse during, 187 p27(Kip 1), 50 Primary cornea stroma, 20 Puberty Primary lens fibers, 16 delayed, multiple endocrine Primitive streak, 1, 2 neoplasia type 2B-related, 337 Professional kindness, in physician- precocious, neurofibromatosis type parent interactions, 70 1-related, 295 Progeria, 453, 587 Pupillary block, Marfan syndrome- , 608 related, 235 Progressive outer retinal necrosis Pupillary membranes, persistent, 20, syndrome (PORN), 515 21 Proptosis (exorbitism) craniosynostosis-related, 159, 160 eccentric location (corectopia) of, surgical treatment of, 159, 161 49 measurement of, 152 in Marcus-Gunn, Klippel- neurofibromatosis type 1-related, Trenaunay syndrome, 328 295 multiple (polycoria), 49–50 index 637

Puppet-like movements, 554 neurosensory, 12, 13, 14 Pyrimethamine, 500 Retinal , embryonic development of, 28 R Retinal vessels, fetal alcohol Radial aplasia-thrombocytopenia syndrome-related tortuosity of, 190 syndrome, 588 Retinal detachment Radiation, ataxia-telangiectasia-related cat scratch disease-related, 484 sensitivity to, 320 Kniest dysplasia-related, 243–244 Rapid plasma reagin test, for syphilis, Marfan syndrome-related, 491 235–236 Rapp-Hodgkin ectodermal dysplasia syphilis-related, 490–491 syndrome, 588 Retinal pigment epithelium (RPE) Reconstructive surgery, for defects of, colobomas associated craniosynostosis, 163–164 with, 37 Refraction, cycloplegic, in craniofacial embryonic development of, 11, 12, syndrome patients, 151 14, 17, 24, 25, 26 Refractive errors Retinitis, rubella-related, 510–511 albinism-related, 252 craniosynostosis-related, 161 genetic heterogeneity of, 79 fetal alcohol syndrome-related, tuberous sclerosis complex-related, 190, 191 305 Goldenhar’s syndrome-related, 185 Retinoblastoma, 589 Refsum’s disease (phytanic acid storage Retinochoroiditis, toxoplasmosis- disease), 254 related, 497, 498, 499, 500 Renal anomalies, CHARGE Retinopathy association-related, 449–450 cystinosis-related, 404, 405 Renal artery stenosis, as hypertension pigmentary, 37 cause, 297, 299 Cockayne syndrome-related, Renal cell carcinoma, von Hippel- 451 Lindau disease-related, 312, 316, of prematurity, 28 317–318 “salt-and-pepper,” rubella-related, Renal failure, Alström syndrome- 511 related, 438–439 Retrolenticular vascular membrane, Renal transplantation, as Alport’s 50 syndrome treatment, 437 , cardiac, tuberous Renal tubular acidosis II, 588–589 sclerosis complex-related, 309 Respiratory disorders, craniosynotosis- Rhizomelic chondrodysplasia punctata, related, 158 245–246 Retina Rib anomalies, CHARGE association- avascular, in neonates, 28 related, 449 disorders of Rieger’s syndrome, 47, 589–590 Alport’s syndrome-related, 436 PITX2 -related, 48 Hurler-Scheie syndrome- Rifampin, 486 related, 362 Ring chromosomes, 84–85 tuberous sclerosis complex- 6, 99 related, 305, 306 11, 85, 87 Walker-Warburg syndrome- 12, 103 related, 468, 469 13, 104 embryonic development of, 12–13, 14, 104 16, 24–28 15, 105 vasculature development, 17, 106 27–28 21, 108 hypopigmentation of, 398 22, 108 638 index

Robinow’s syndrome, 590 Scotomas, myelinated nerve fibers- differentiated from Opitz G/BBB related, 31 syndrome, 458 Seckel’s syndrome, 592 Rods, embryonic development of, Secondary lens fibers, 18–19 26–27 Seizures Rothmund-Thomson syndrome, 590 Aicardi’s syndrome-related, 430– Rubella, 506, 510–513 431, 433 Rubinstein-Taybi syndrome, 34, 465– Gaucher’s disease-related, 384 468, 590 neurofibromatosis type 1-related, 298 S neuronal ceroid-lipofuscinoses- Saethre-Chotzen syndrome, 173, related, 391, 392 590–591 Sturge-Weber syndrome-related, Sagittal synostosis, 157 326, 327 Sandhoff disease, 356, 361–362, tuberous sclerosis complex-related, 562–563 308, 309–310 Sanfilippo syndrome, 591 tyrosinemia-related, 401 Santavuori-Haltia disease, 391, 392 Wyburn-Mason syndrome-related, Saturn’s ring, 237–238 333–334 Scaphocephaly, 608 Self-mutilating behavior, Prader-Willi Scheie’s syndrome, 356, 361–362, 591 syndrome-related, 461 Schinzel-Giedion midface-retraction Septo-optic dysplasia, 35, 592–593 syndrome, 591–592 Sequence, definition of, 146 Schlemm’s canal, 23 Sex-determining chromosomes, 82 absent or abnormal lining of, 48 aneuploidy of, 120–121 Schwalbe’s line of, 83–84 anterior displacement of, 47 Shah-Waardenburg syndrome, 202 in Marfan syndrome, 575–576 Schwannomas Cockayne syndrome-related, 451, neurofibromatosis type 2-related, 452 302 Hallermann-Streiff syndrome- vestibular, 300, 302, 303 related, 191 neurofibromatosis type 2- Kabuki make-up syndrome-related, related, 304 455, 456 Schwannomin, 301 Prader-Will syndrome-related, 459, Schwart-Jampel syndrome, 592 460 Sclera Sly syndrome-related, 367 bilateral pigmentation of, SHORT syndrome, 593 ochronosis-related, 253 Shprintzen-Goldberg craniosynostosis blue syndrome, 594 Ehlers-Danos syndrome- Shprintzen syndrome, 593–594 related, 238 Sialidosis, 371 Hallermann-Streiff syndrome- Sialidosis syndrome, 579 related, 194 Sialolipidosis syndrome, 594 incontinentia pigmenti-related, Simpson-Golabi-Behmel syndrome, 256 type I, II, 594 osteogenesis imperfecta- Sjögren-Larsson syndrome, 254 related, 237–238 Skeletal anomalies embryonic development of, 23–24 CHARGE association-related, Sclerocornea, 46–47 449 Sclerosteosis, 592 homocystinuria-related, 406 , homocystinuria-related, Kabuki make-up syndrome-related, 406 454 index 639

Skeletal anomalies (Continued) Spondyloepiphyseal dysplasia tarda, Rubinstein-Taybi syndrome- 595–596 related, 467 Spranger’s syndrome, 579 Skeletal dysplasias, 269–272 Squamous cell carcinoma, xeroderma oculo-dento-osseous dysplasia, pigmentosum-related, 263 269–271 Status epilepticus, tuberous sclerosis osteopetrosis (Albers-Schonberg complex-related, 310 disease), 271–272 Stevens-Johnson syndrome, 268–269 Skin disorders, 249–269 Stickler syndrome, 147, 151, 240–242, albinism, 249–252 240–243 Cockayne syndrome, 257–259 relationship with Marshall ectodermal dysplasia, 264–266 syndrome, 576, 596 erythema multiforme, 268–269 type I, 596–597 focal dermal hypoplasia, 259–260 ichthyosis, 253–255 albinism-related, 252, 399 incontinentia pigmenti, 255–257 amniotic band sequence-related, juvenile xanthogranuloma, 208–209 266–268 Brachmann-de Lange syndrome- linear nevus sebaceous, 260–261 related, 440, 442 ochronosis, 252–253 branchio-oculo-facial syndrome- oculodermal melanocytosis, related, 443 261–262 chromosomal abnormalities Stevens-Johnson syndrome, associated with, 87 268–269 craniosynostosis-related, 157, xeroderma pigmentosum, 262–264 161–162 Skull shape, in Apert syndrome, 164 fetal alcohol syndrome-related, Sleep apnea, Prader-Willi syndrome- 187 related, 461 Gaucher’s disease-related, 384 Sly syndrome, 357, 367, 580 Goldenhar’s syndrome-related, Smith, Robert William, 291 185 Smith-Lemli-Opitz syndrome, type I, Hallermann-Streiff syndrome- 595 related, 193–194 Soft-tissue tumors, Proteus syndrome- hypertelorism associated with, 35, related, 463–464 174 Somites, embryonic development of, 5, Marfan syndrome-related, 235 8 Möbius sequence-related, 196 Somitomeres, 8, 32 plagiocephaly-related, 172 Sonic hedgehog gene, 179 Prader-Willi syndrome-related, , 595 459 Spasms, infantile, Aicardi’s syndrome- toxocariasis-related, 495, 497 related, 430–431 V-pattern, Apert syndrome-related, Speech delay, Brachmann-de Lange 165–166 syndrome-related, 441 Streeter bands, 207–209 Spherophakia, Weill-Marchesani Sturge-Weber syndrome, 322–327, 597 syndrome-related, 238–239 etiology of, 322 Spielmeyer-Sjögren disease, 391, ophthalmologic features of, 392–393 322–326 Spina bifida, hemifacial microsomia- treatment of, 327 related, 183 Subacute sclerosing panencephalitis, Spondylocarpotarsal synostosis 508, 509, 510 syndrome, 595 Superior oblique muscle palsy, Spondyloepiphyseal dysplasia congenital, 206 congenita, 595 Symphalangism, 580, 608 640 index

Syndactyly Terminal transverse defects with Apert syndrome-related, 164, 165 orofacial malformations (TTV-OFM), Carpenter syndrome-related, 195 168 9p, 113 definition of, 608 Thalidomide oculo-dento-osseous dysplasia- as Möbius syndrome cause, 197 related, 270 as Wildervanck syndrome cause, Syndrome, definition of, 147–148 201–202 Synophrys Thiabendazole, 496 Brachmann-de Lange syndrome- Thrombocytopenia, Alport’s syndrome- related, 440, 441 related, 436 Waardenburg syndrome-related, Thromboembolism, homocystinuria- 203 related, 406–407 Synophthalmia, 52 carcinoma, multiple endocrine chromosomal aberrations neoplasia type 2B-related, 335, 339 associated with, 90 Ticks, as Lyme disease vectors, 486, Synostosis, 608 487 Muenke nonsyndromic coronal, Tissue of Kuhnt, 30–31 173 TORCH infections, 483, 506 Syphilis, 489–493 Torticollis, congenital, 206–207 acquired, 492–493 Tower head deformity (oxycephaly), congenital, 490–493 156–157 Toxocariasis, 493–497 T Toxoplasma gondii, as toxoplasmosis Tapetoretinal, 608 cause, 498 Tapetum, 608 Toxoplasmosis, 497–501, 506 Tarsorrhaphy, craniosynostosis Transforming growth factor, 19 patients, 159 Transient fiber layer of Chievitz, 24, Taybi syndrome, 585 25, 26 Tay-Sachs disease, 368, 372–373, 562 Translocations, chromosomal, 85–87 cherry-red spots associated with, Robertsonian, 85, 86, 87 371, 373, 374 Treacher Collins syndrome, 150–151, Sandhoff variant of, 373 179–182, 598 Telangiectasia Treacher Collins Syndrome conjunctival, ataxia-telangiectasia- Collaborative Group, 181 related, 318, 319 Treponoma palladium, as syphilis oculocutaneous, ataxia- cause, 490, 491 telangiectasia-related, 320 Trich-rhino-phalangeal syndrome, Telecanthus 572–573 fetal alcohol syndrome-related, Trifluridine, 504 187, 189 Trigeminal nerve. See Cranial nerve V frontonasal dysplasia-related, 175 Trigonocephaly, 608 Opitz G/BBB syndrome-related, Trimethoprim-sulfamethoxazole, 456–457 486 Prader-Willi syndrome-related, Triploidy type II, 598 459 Trisomy syndromes, 91–95 Waardenburg syndrome-related, 8, 91, 598–599 173, 174, 203 9, 91, 599 Telescopes, monocular, 252 9p, 556–557 , 10, 91 displacement of, 191–192 13 (Patau’s syndrome), 92–93, 450, Teratoma, soft palate, Aicardi’s 599 syndrome-related, 433 14, 93 index 641

Trisomy syndromes (Continued) V 18 (Edward’s syndrome), 93–94, Varicella-zoster virus, 513–518 599–600 Vascular disruption, as Möbius 21. See Down syndrome syndrome cause, 197–198 22, 95 Venereal Disease Research Laboratory definition of, 83 (VDRL) test, for syphilis, 491 partial, 85, 87 Ventriculomegaly Trust, in physician-parent interactions, Aicardi’s syndrome-related, 431 69 Kabuki make-up syndrome-related, Truth, in physician-parent interactions, 455 68 Vertebral anomalies Tuberous sclerosis complex, 304–311 CHARGE association-related, 449 clinical assessment of, 307–308 homocystinuria-related, 406 etiology of, 305 Proteus syndrome-related, 464–465 genetic factors in, 305, 309 Vigabatrin, 378 natural history of, 309–310 Vimentin, 12, 19 ophthalmologic features of, Viral diseases, 501–518 305–307 herpes simplex virus, 501–505 systemic associations of, 308–309 lymphocytic choriomeningitis treatment of, 310–311 virus, 505–507 Tunica vasculosa lentis, 19–20, 21 measles, 507–510 Turner-like syndrome, 583 rubella, 510–513 Turner’s syndrome, 120–121, 605 varicella-zoster, 513–518 chromosomal analysis of, 82–83 Virchow, Rudolf, 155 Turricephaly, 608 Visual acuity defects Twins, monozygotic, Aicardi’s albinism-related, 252 syndrome in, 433 toxocariasis-related, 495 Tyrosinase deficiency, albinism-related, toxoplasmosis-related, 500 249, 394–395, 396 Visual evoked potentials (VEPs) Tyrosinemia, 399–401 in Aicardi’s syndrome, 432 oculocutaneous, 400–401 in craniosynostosis, 158 Tzanck smear, 503 in Menkes’ disease, 355 in Prader-Willi syndrome, 459 U Visual field testing, in craniofacial Ultraviolet light sensitivity, Cockayne anomaly patients, 152 syndrome-related, 450 Visual loss/impairment Unknown genesis syndrome, 148 Alström syndrome-related, 437, Upper airway obstruction, Hallermann- 439 Streiff syndrome-related, 192–193 cat-scratch disease-related, 486 Uridine diphosphate galactose-4’ craniosynostosis-related, 158 epimerase (GALE) deficiency, 411– Goldenhar’s syndrome-related, 185 412 reconstructive facial surgery- , 600–601 related, 163–164 Uvea, Prader-Willi syndrome-related referrals and information resources hypopigmentation of, 459 regarding, 73–74 Uveitis rubella-related, 513 cat scratch disease-related, 484 toxocariasis-related, 497 Hallermann-Streiff syndrome- Vitamin A, teratogenicity of, 180 related, 194 Vitamin A deficiency, 508

Lyme disease-related, 487, 489 Vitamin B6, as homocystinuria syphilis-related, 490–491, 492–493 treatment, 248, 409 toxocariasis-related, 493 Vitamin E, as ataxia-telangiectasia toxoplasmosis-related, 498 treatment, 321 642 index

Vitrectomy, as ocular toxocariasis , 603 treatment, 497 Whistling face syndrome, 561 Vitreous Wildervanck syndrome (cervico-oculo- angiogenesis inhibition in, 28 acoustic syndrome), 199–202 cat-scratch disease-related , 603–604 hemorrhage of, 484 Wilm’s tumor, aniridia associated with, embryonic development of, 17, 148 29–30 Wilson’s disease, 350–353 persistent hyperplastic (PHVP), 30, Wishhart, J. H., 300 33, 50 Wolf-Hirschhorn syndrome, 448 Vitreous veil, Stickler syndrome- chromosomal in, 81 related, 240, 241 Wyburn-Mason syndrome, 331–334 Vitritis, syphilis-related, 490–491 von Hippel, Eugene, 311 X von Hippel-Lindau disease, 311–318, Xanthogranuloma, juvenile, 266–268 601–602 Xanthomatous lesions, clinical assessment of, 314–315 pseudoxanthoma elasticum-related, etiology of, 312 227 hemangioblastomas associated , 77 with, 311, 312, 313, 314, 315, Xeroderma pigmentosum, 258, 317 262–264, 604 natural history of, 316–317 X-linked mutations, 78 ophthalmic features of, 312–314 X-linked a-thalassemia/mental prognosis for, 317–318 retardation syndrome, 604 systemic associations of, 315–316 XO syndrome, 605 treatment of, 318 XXX syndrome, 605 von Recklinghausen, Friedrich, 291 XXXXX syndrome, 605 von Recklinghausen disease, 581–582 XXXXY syndrome, 605 XXXY syndrome, 605 W Waardenburg syndrome (Klein- Y Waardenburg syndrome), 173, 174, , 77 202–205, 602 Y sutures, 18–19 types of, 202, 203–204 Yunis-Varon syndrome, 605–606 Walker-Warburg syndrome (WWS), 468– 471, 602–603 Z Watson syndrome, 299 Zellweger cerebrohepatorenal , 603 syndrome, 246 Weiger’s ligament, 30 , 606 Weill-Marchesani syndrome, 238–239, Zygoma, mandibulofacial dysostosis- 603 related abnormalities of, 179–180