Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

Farber disease, 389–390

cherry-red spots associated with, 371

Femoral hypoplasia-unusual facies syndrome, 560

Fetal akinesia sequence, 586

Fetal alcohol effects (FAE), 187–188 Fetal alcohol syndrome (FAS), 53, 147,

151, 187–191

a-Fetoprotein, as ataxia telangiectasia marker, 320

FG syndrome, 560

Fibrillin, in Marfan syndrome, 233, 235 Fibroblast growth factor (FGF), 19 Fibroblast growth factor receptor-

related craniosynostosis syndromes, 166, 168, 169, 170, 173

Fibronectin, 7, 21–22 Filensin, 19

Fistulas, tracheoesophageal, 449, 457 Fluorescent in situ hybridization

(FISH), 80, 81, 82, 85

Focal dermal hypoplasia, 259–260, 564 Folinic acid, as toxoplasmosis

treatment, 500

Forebrain, embryonic development of, 5, 8, 9, 10

Forelock, white, Waardenburg syndrome-related, 203

Fovea

in albinism, 396, 398 embryonic development of, 27

FoxE3 gene, 16

Fragile X syndrome, 560 Francheschetti-Zwahlen-Klein

syndrome, 179, 598. See also Treacher Collins syndrome François dyscephalic syndrome,

191–194, 565–566 Fraser syndrome, 560–561

Freeman-Sheldon syndrome, 561 Frontometaphyseal dysplasia, 561 Frontonasal dysplasia, 175–177

differentiated from Opitz G/BBB syndrome, 458

Frontonasal dysplasia sequence, 561 Frontonasal syndrome, 561 Fucosidosis, 371

Fundus

albinism-related hypopigmentation of, 398

craniosynostosis-related pigmentary changes, 162

Morquio syndrome-related abnormalities of, 366

peau d’orange appearance of, 228, 229

peripheral pigmentation of, ichythyosis-related, 254

Funduscopic examination, in craniofacial syndrome patients, 151

G

Galactokinase (GALK) deficiency, 411 Galactose, 409

Galactosemia, 409–412 Galactose-1-phosphate uridyltransferase

(GALT) deficiency, 409–411 Galactosialidosis, 371 a-Galactosidase deficiency, 365

a-Galactosidase A deficiency, 386–387, 388–389

b-Galactosidase deficiency, 357, 369, 372

Galactosylceramidase deficiency, 385 Galactosyl sulfatide, 377

GALE (uridine diphosphate galactose-4’ epimerase) deficiency, 411–412

GALK (galactokinase) deficiency, 411 GALT (galactose-1-phosphate

uridyltransferase) deficiency, 409–411 Gametes, 78

developmental errors in, 78–79 Gangliosidoses, 368–375, 561–562

GM1, 368, 369, 370–372 adult/chronic, 372 infantile, 369, 370 juvenile type, 562

late infantile/juvenile, 369, 370–372

GM2, 368, 369, 372–375 acute infantile (Tay-Sachs

disease), 372–373 Bernheimer-Seitberger disease

(type III), 563 chronic, 375

infantile, Sandhoff variant of, 373

Sandhoff disease (type II), 562–563

subacute, 373, 375

Tay-Sachs disease (type I), 562 Gastrointestinal tract anomalies,

CHARGE association-related, 449 Gastrulation, 1, 2–3

Gaucher cells, 382, 383

Gaucher’s disease, 371, 381–385

type 2 (acute neuronopathic), 382, 384

type 1 (chronic nonneuronopathic), 382, 383–384

type 3 (subacute neuronopathic), 382, 384–385

Geleophysic dysplasia, 563 Gene, definition of, 76

Genee-Wiedemann syndrome, 577–578 Genetic heterogeneity, 79

Genetic syndromes, with ophthalmic features, 430–482

Aicardi’s syndrome, 430–434 Alport’s syndrome, 434–437 Alström syndrome, 437–439 Brachmann-de Lange syndrome,

439–442 branchio-oculo-facial syndrome,

442–446

CHARGE association syndrome, 446–450

Cockayne syndrome, 257–259, 450–453, 549

glossary of terms related to, 607–608

Kabuki make-up syndrome, 454– 456, 571

Opitz G/BBB syndrome, 456–458 Prader-Willi syndrome, 459–462 Proteus syndrome, 462–465 Rubinstein-Taybi syndrome, 465–

468

Walker-Warburg syndrome, 468– 471

Gentamicin, 486 Gillespie syndrome, 563 Glaucoma

congenital, 48–49

anterior segment dysgenesisrelated, 47

Barkan’s membrane in, 23 syphilis-related, 490

Crouzon syndrome-related, 169 Hallermann-Streiff syndrome-

related, 194 homocystinuria-related, 408 Hunter’s syndrome-related, 363 Klippel-Trenaunay syndrome-

related, 328

Marfan syndrome-related, 235 Maroteaux-Lamy syndrome-related,

367

neurofibromatosis type 1-related, 295, 299

ocular anomalies associated with, 33, 34, 36

open-angle, Hurler-Scheie syndrome-related, 363

Prader-Willi syndrome-related, 459 pupillary block, cystinosis-related,

405

rubella-related, 511, 513 Rubinstein-Taybi syndrome-

related, 467

Scheie syndrome-related, 362 Sturge-Weber syndrome-related,

324, 325, 327 Gliomas

neurofibromatosis type 2-related, 302

of the optic nerve, neurofibromatosis type 1-related, 295, 296, 297, 299

Globe

colobomas of, 208–209 rupture of, 230, 233

Glossary, of terms associated with inherited diseases, 607–608

Glossoptosis, Pierre Robin syndromerelated, 147

a-Glucosaminide-N-acetyltransferase deficiency, 364

b-Glucuronidase deficiency, 357, 367, 580

Goldenhar-Gorlin syndrome. See Goldenhar’s syndrome

Goldenhar’s syndrome, 36, 44, 45, 563–564

as hemifacial microsomia variant, 182–186

relationship with

frontonasal dysplasia, 176 Wildervanck syndrome,

200–201

Goltz-Gorlin syndrome, 259–260, 564 Goltz syndrome, 564

Gonadotropin deficiency, CHARGE association-related, 449

Goodman syndrome, 527, 564 Gorlin’s syndrome, 564–565 Granulocytopenia, Cohen syndrome-

related, 239, 240 Granulomas, ocular

cat-scratch disease-related, 484 toxocariasis-related, 494

Greig cephalopolydactyly syndrome, 545

Grönblad-Strandberg syndrome. See Pseudoxanthoma elasticum

Growth factors, in lens differentiation, 19

Growth hormone deficiency, Alström syndrome-related, 438–439

Growth retardation ataxia-telangiectasia-related, 320 Cockayne syndrome-related, 451,

452

Kabuki make-up syndrome-related, 454, 455

G syndrome, 456

Gynecomastia, Alström syndromerelated, 438

H

Hair anomalies. See also Alopecia focal dermal hypoplasia-related,

259

Menkes’ disease-related, 353–354 premature graying, 446

Hajdu-Cheney syndrome, 565 Hallermann-Streiff syndrome, 191–194,

565–566 Hamartomas, 291

of the central nervous system, 308, 309, 310

glial, tuberous sclerosis complexrelated, 305

melanocytic, of the iris, 292 neurofibromatosis type 1-related,

292

neurofibromatosis type 2-related, 301

retinal

astrocytic, 295 neurofibromatosis type 2-

related, 301

tuberous sclerosis complexrelated, 305

“Happy puppet syndrome,” 554 HARD+/-E syndrome, 469 Hay-Wells syndrome of ectodermal

dysplasia, 566

Head shape, in craniosynostosis, 155–157

Hearing loss

Alport’s syndrome-related, 435 CHARGE association-related,

205–206, 449

Cockayne syndrome-related, 257, 453

hemifacial microsomia-related, 183

Hunter’s syndrome-related, 363 KID syndrome-related, 254 osteopetrosis-related, 272

referrals and information resources regarding, 72

rubella-related, 506

Stickler syndrome-related, 240 Treacher Collins syndrome-related,

150–151

Waardenburg syndrome-related, 203, 204

Wildervanck syndrome-related, 199, 200

xeroderma pigmentosum-related, 262

Hemangioblastomas, von HippelLindau disease-related, 311, 312, 313, 314, 315, 317

Hemangiomas

choroidal, Sturge-Weber syndromerelated, 322, 324, 327

neurofibromatosis type 2-related, 302

palatal, Aicardi’s syndrome-related, 433

racemose, 331

Hematuria, Alport’s syndrome-related, 434

Hemifacial microsomia, 182–186 Hemorrhage, vitreous, 484

Heparan N-sulfatase deficiency, 364 Hepatoblastomas, Aicardi’s syndrome-

related, 433

Hermansky-Pudlak syndrome (HPS), 249, 250, 394, 396–397

Herpes simplex virus, 483, 501–505 Herpes zoster ophthalmicus, 514, 515,

517, 518

Herpes zoster virus, 514–515 Heterochromia

Klippel-Trenaunay syndromerelated, 328

Sturge-Weber syndrome-related, 325

Waardenburg syndrome-related, 203

Heterozygosity, 77

Hexosaminidase A deficiency, 369, 373, 375

Hexosaminidase B deficiency, 369, 373, 375

High-resolution banding, of chromosomes, 80

Hindbrain, embryonic development of, 5, 8

Hirschsprung disease, 202 Holoprosencephaly, 36, 52–54, 177–179

CHARGE association-related, 449 definition of, 608

fetal alcohol syndrome-related, 188 Holt-Oram syndrome, 566 Homocystinuria, 246–248, 406–409,

566–567 Homozygosity, 77

Hordeola, Brachmann-de Lange syndrome-related, 440

Horizontal gaze, Gaucher’s diseaserelated disorder of, 384

Hox genes, 149 Hunter’s syndrome, 567

Hurler-Scheie syndrome, 568 Hurler syndrome, 567–568 Hutchinson-Gilford syndrome, 587 Hutchinson’s triad, 492

in syphilis, 492

Hyaloid vasculature, embryonic development of, 13, 14, 15, 17, 24, 25

Hyaluronic acid, 20, 21 Hydrocephalus

Aicardi’s syndrome-related, 433– 434

Crouzon syndrome-related, 169 Hunter’s syndrome-related, 363 lymphocytic choriomeningitis

virus-related, 506 Maroteaux-Lamy syndrome-related,

366, 367

neurofibromatosis type 1-related, 295

referrals and information resources regarding, 72–73

tuberous sclerosis complex-related, 310

Walker-Warburg syndrome-related, 468

Hyoid artery, 12

anatomy of, 13, 19, 27

embryonic atrophy and regression of, 27, 30

embryonic development of, 13, 19–20, 21, 27, 30

Hypertelorism, 173–177

amniotic band sequence-related, 208–209

Apert syndrome-related, 165–166 Brachmann-de Lange syndrome-

related, 440 branchio-oculo-facial syndrome-

related, 443, 444 chromosomal abnormalities-

related, 87

frontonasal dysplasia-related, 175–176

Opitz G/BBB syndrome-related, 456–457

Hypertension

Alport’s syndrome-related, 435 pheochromocytoma-related, 297,

299

renal artery stenosis-related, 297, 299

Hyperthermia, as Möbius syndrome cause, 198

Hypertrichosis, mucopolysaccharidosesrelated, 355

Hyphema, juvenile xanthogranulomarelated, 267

Hypoblast, 1, 2 Hypochondroplasia, 568 Hypodactyly, 608 Hypogonadism

CHARGE association-related, 449 Prader-Willi syndrome-related, 461

Hypohidrotic ectodermal dysplasia syndrome, 568–569

Hypomelanosis of Ito, 256, 569 Hypophosphatasia, 569 Hypopigmentation

cutaneous, ocular albinism-related, 398

fundal, 398

of the hair, 396

retinal, albinism-related, 393 Waardenburg syndrome-related,

204

Hypoplasia, mandibular, 147 Hypospadius, CHARGE association-

related, 449 Hypotelorism, 177 Hypotonia, neonatal, 338

I

ibonucleic acid (RNA), structure of, 77 Ichthyosis, 253–255

Ichythyosiform erythroderma, 254 Ichythyosis

lamellar, 254, 255 X-linked, 254–255

Ichythyosis vulgaris, 254–255 a-L-Iduronidase deficiency, 358, 361,

362

Incontinentia pigmenti, 255–257, 569–570

Incontinentia pigmentosa achromians, 569

Infectious diseases, 483–525 bacterial diseases, 483–493

cat scratch disease, 483–486 Lyme disease, 483, 486–489 syphilis, 483, 489–493

parasitic diseases, 493–501 toxocariasis, 493–497 toxoplasmosis, 483, 497–501

viral diseases, 501–518 cytomegalovirus, 483

herpes simplex virus, 501–505 lymphocytic choriomeningitis

virus, 483, 505–507 measles, 507–510 rubella, 483, 510–513 varicella-zoster, 513–518

Inherited diseases, 526–608. See also Genetic syndromes, with ophthalmic features

alternative names for, 526–536 ocular and systemic findings in,

537–606

Interphalangeal joints, Kniest dysplasiarelated enlargement of, 242, 243

Interpupillary distance, measurement of, 152, 153–155

Intestines, CHARGE associationrelated anomalies of, 449

Intracranial pressure, craniosynostosisrelated increase in, 158

Intraocular pressure (IOP) assessment of, in craniofacial

anomalies, 152 congenital glaucoma-related

increase of, 48 fetal, 12–13

inhibition of, 33

herpes simplex virus-related increase of, 503

Intrauterine growth retardation, CHARGE association-related, 449– 450

Iridocorneal angle

in congenital glaucoma, 49 maturation of, 47–48

Iridocorneal endothelial syndromes, 48 Iridocyclitis, rubella-related, 511–512 Iridodonesis, Marfan syndrome-related,

234 Iris

albinism-related transparency of, 397–398

colobomas of, 33, 36–37, 38–39, 87–88

craniosynostosis-related, 162 Crouzon syndrome-related

anomalies of, 169

embryonic development of, 22–23 heterochromia of, Waardenburg

syndrome-related, 203 hypopigmentation of, 393, 395–396 hypoplasia of, 35

sectoral pigmentation of, tuberous sclerosis complex-related, 305, 307

Iris dilator muscle, hypoplasia of, 511–512

Iris roseolae, syphilis-related, 490–491 Isotretinoin, teratogenicity of, 180

J

Jackson-Weiss syndrome, 570 Jansky-Bielschowsky disease, 391, 392 Jarcho-Levin syndrome, 570

Jeune thoracic dystrophy, 570 Johanson-Blizzard syndrome, 570 Joint hyperextensibility, Ehlers-Danos

syndrome-related, 231, 232

Joint laxity and dislocation, Kabuki make-up syndrome-related, 454

Joubert syndrome, 570–571 Juvenile xanthogranuloma, 266–268

K

Kabuki make-up syndrome, 454–456, 571

Karyotyping, 79, 80, 81, 82 Kasabach-Merritt syndrome, 330–331 Kayser-Fleischer rings, 351, 352, 353 Keratan sulfates, corneal, 22 Keratitis

herpes simplex virus-related, 502, 503, 504, 505

interstitial, syphilis-related, 492 Lyme disease-related, 487, 489

Keratitis (Continued) measles-related, 508 syphilis-related, 492

Keratitis, ichythosis, and deafness (KID) syndrome, 254, 571

Keratoconus, 37 craniosynostosis-related, 162 Crouzon syndrome-related, 169

Keratopathy, cystinosis-related, 403– 404

KID (keratitis, ichythosis, and deafness) syndrome, 254, 571

Killian/Teschler-Nicola syndrome, 571–572

Klinefelter’s syndrome, 121 chromosomal analysis of, 82–83

Klippel-Feil syndrome definition of, 608

hemifacial microsomia-related, 183 Wildervanck syndrome-related, 199

Klippel-Trenaunay-Weber syndrome, 328–331, 572

Kniest dysplasia, 242–244, 572 Known genesis syndrome, 149 Koplik spots, 509

Krabbe’s disease, 385–386

cherry-red spots associated with, 371

Kufs’ disease, 391, 393 Kyphoscoliosis

Alström syndrome-related, 438– 439

neurofibromatosis type 1-related, 299–300

L

Lacrimal puncta, location of, 152 Lacrimal system

craniosynostosis-related dysfunction of, 162, 164

postoperative dysfunction of, 164 Lacrimation, paradoxical, 199 Lacrimo-auriculo-dento-digital

syndrome, 574

Lamina cribosa, in optic nerve myelinization, 31–32

Langer-Giedion syndrome, 572–573 Larsen’s syndrome, 573

Larval migrans, visceral, 496 Laser therapy

for retinal hemangioblastoma, 317 for vascular facial angiofibromas,

311

Lawrence-Moon-Bardet-Biedl syndrome, 543

referrals and information resources regarding, 73

L-dopa, 321

Learning disabilities, neurofibromatosis type 1-related, 298

Leber’s congenital amaurosis, 36, 573 differentiated from Alström

syndrome, 438

Lens

embryonic development of, 9, 10, 11, 12, 15–20

Fabry’s disease-related opacity of, 388

homocystinuria-related dislocation of, 407–408

subluxation of homocystinuria-related, 246,

247, 248

Marfan syndrome-related, 233–234

Lens bow, 18

Lens nucleus, 16, 17, 18, 19 Lens placode, 1, 5, 9, 10, 11, 12 Lenticonus

anterior, 19

bilateral anterior, Alport’s syndrome-related, 435–436

posterior, 19

Alport’s syndrome-related, 435–436

Walker-Warburg syndromerelated, 469

Lenz-Majewski hyperostotic dwarfism, 573–574

Leopard syndrome, 580 Leprechaunism, 574

Leroy I-cell syndrome, 579 Leukocaria, toxocariasis-related, 494–

495

Leukodystrophy, metachromatic, 375–378

adult-onset, 377

cherry-red spots associated with, 371

Leukomas, corneal, 208 Levator muscle, in midface

reconstructive surgery, 164 Levy-Hollister syndrome, 574 Lid notching, Treacher Collins syndrome-related, 150–151

Lid retraction, proptosis-related, 159

Lids

colobomas of, 36, 51–52 cysts of, 40, 42, 44

embryonic development of, 15, 18, 29, 32

Lindau, Arvid, 311

Linear nevus sebaceous, 260–261 Linear nevus sebaceous of Jadassohn,

574–575

Lipodermoids, conjunctival, 183, 184, 185, 186

Lipodystrophy, partial, with Rieger anomaly, 575

Lipogranulomatosis, disseminated, 389 Lipomas, Aicardi’s syndrome-related,

433

Lisch nodules, 292, 294–295 Lissencephaly

unilateral, Aicardi’s syndromerelated, 431

Walker-Warburg syndrome-related, 468, 469

Livedo reticularis, 407

Liver disease, Wilson’s disease-related, 351, 352

Lobster-claw hand deformity, 265 Lowe syndrome, 583

Low-vision aids, for albinism patients, 399

Lyme disease, 486–489 Lymphadenopathy

cat scratch disease-related, 483, 485

Lyme disease-related, 488 rubella-related, 510 syphilis-related, 492

Lymphocytic choriomeningitis virus, 505–507

Lysyl hydroxylase deficiency, 230, 232

M

Macrocephaly, lymphocytic choriomeningitis virus-related, 506

Macrocephaly-Ehlers-Danos VI phenotype, 230

Macromelanosomes, 251 Macrostomia, hemifacial microsomia-

related, 183 Macula

edema of, cat-scratch diseaserelated, 484, 485

toxocariasis-related injury to, 495 Madarosis, 265

Malformation, definition of, 146 Mandible

hypoplastic, 191–192 mandibulofacial dysostosis-related

abnormalities of, 179–180 Mandibulofacial dysostosis. See

Treacher Collins syndrome Marden-Walker syndrome, 575 Marfanoid body habitus, multiple

endocrine neoplasia type 2B-related, 335, 336, 337–338

Marfan syndrome, 233–236, 575–576 differentiated from

homocystinuria, 246, 248 referrals and information resources

regarding, 73

Marginal bundle of Drualt, 29–30 Marker X syndrome, 560 Maroteaux-Lamy syndrome, 576 Marshall-Smith syndrome, 576 Marshall syndrome, 576

relationship with Stickler syndrome, 576, 596

Martin-Bell syndrome, 560 Measles, 507–510

MEB (muscle-eye-brain) syndrome, 469, 470

Median face cleft syndrome. See Frontonasal dysplasia

Megacolon, aganglionic, 202 Megalocornea

Hurler syndrome-related, 361 Marfan syndrome-related, 234

Meiosis

development of chromosomal abnormalities during, 83

process of, 78 Melanins, 393–394

Melanocyte differentiation anomaly, 204

Melanocytes, 393–394 Melanocytosis, oculodermal, 261–262 Melanoma, xeroderma pigmentosum-

related, 261–262, 263, 264 Melanosis

conjunctival, xeroderma pigmentosum-related, 263

ocular cutaneous, Sturge-Weber syndrome-related, 326

Melnick-Fraser syndrome, 577 Melnick-Needles osteodysplasty, 577 Membrane proteins, 19

Mendelian inheritance, 78

Meningeal tumors, neurofibromatosis type 2-related, 300

Meningiomas, neurofibromatosis type 2-related, 302

Meningitis

Lyme disease-related, 488 syphilis-related, 492–493 Menkes’ disease, 350, 353–355

Mental retardation

Apert syndrome-related, 165 Brachmann-de Lange syndrome-

related, 441–442

Carpenter’s syndrome-related, 168 CHARGE association-related,

205–206, 449 chromosomal abnormalities-

related, 90

fetal alcohol syndrome-related, 188, 189

Hallermann-Streiff syndromerelated, 192

homocystinuria-related, 407, 408– 409

Hurler syndrome-related, 360 Kabuki make-up syndrome-related,

455

neurofibromatosis type 1-related, 298

Prader-Willi syndrome-related, 461 Proteus syndrome-related, 340, 341 Rubinstein-Taybi syndrome-

related, 465

Sanfilippo syndrome-related, 364 tuberous sclerosis complex-related,

304, 310 tyrosinemia-related, 401

xeroderma pigmentosum-related, 263

Merlin, 301

Merrick, John, 339, 462 Mesenchyme, 8, 13, 14, 15

corneal, 21

neural crest cell-derived, 21 Mesoderm, 1, 2, 3, 7, 8

of Schlemm’s canal, 23 Metabolic diseases, 350–429

cystinosis, 402–406 nephropathic, 402–403 nonnephropathic, 402

disorders of copper metabolism, 350–355

Menkes’ disease, 350, 353–355 Wilson’s disease, 350–353

Fabry’s disease, 386–389 Farber disease, 389–390 gangliosidoses, 368–375

GM1, 368, 369, 370–372, 562 GM2, 368, 369, 372–375,

562–563

Gaucher’s disease, 381–385 type 1 (chronic

nonneuronopathic), 382, 383–384

type 3 (subacute neuronopathic), 382, 384–385

type 2 (acute neuronopathic), 382, 384

Krabbe’s disease, 385–386 metachromatic leukodystrophy,

375–378 mucopolysaccharidoses, 355–367

Hunter syndrome, 355, 356, 358, 363–364, 567

Hurler-Scheie syndrome, 356, 362–363, 568

Hurler syndrome, 355, 356, 358–361, 567–568

Maroteaux-Lamy syndrome, 357, 366–367

Morquio syndrome, 357, 365–366

Sanfilippo syndrome, 356, 364–365, 591

Scheie syndrome, 356, 361–362

Sly syndrome, 357, 367 neuronal ceroid-lipofuscinoses,

390–393

Jansky-Bielschowsky disease, 391, 392

Kufs’ disease, 391, 393 Santavuori-Haltia disease, 391,

392

Spielmeyer-Sjögren disease, 391, 392–393

Niemann-Pick disease, 379–381 type(s) A and B, 379–380 type C, 380–381

tyrosinemia, 399–401 oculocutaneous, 400–401

Metachromatic leukodystrophy, 375–378

Metaphysis, 608 Microcephaly

Cockayne syndrome-related, 451

Mucopolysaccharidoses (MPS) (Continued)

Sanfilippo syndrome (MPS III), 356, 364–365, 591

Scheie syndrome (MPS IS), 356, 361–362, 591

Sly syndrome (MPS VII), 357, 367, 580

Mucosal neuroma syndrome. See Multiple endocrine neoplasia (MEN) type 2B

Mucosulfatidosis, 378 Mueller cells, 26 Mulberry lesions, 305

Mulibrey nanism syndrome, 580 Multifactorial inheritance, 78 Multiple endocrine neoplasia (MEN)

type 2B, 291, 335–339

clinical assessment of, 335–337 ophthalmologic features of, 335 systemic associations of, 337–338

Multiple lentigines syndrome, 580 Multiple pterygium syndrome, 559 Multiple sulfatase deficiency (MSD),

378

Multiple synostosis syndrome, 580 Muscle-eye-brain (MEB) syndrome, 469,

470

Muscular dystrophy Fukuyama congenital, 470

Walker-Warburg syndrome-related, 470

Mutations single, 78 types of, 78

Mycoplasma pneumoniae infections, 268

Myelin, metachromatic leukodystrophy-related degeneration of, 375–376

Myelinization, of the optic nerve, 31–32

Myocarditis, Lyme disease-related, 488 Myoinositol, 321

Myopia

Brachmann-de Lange syndromerelated, 440, 442

branchio-oculo-facial syndromerelated, 443

Cohen syndrome-related, 239 Gaucher’s disease-related, 385 homocystinuria-related, 408 Prader-Willi syndrome-related, 459

N

Naevus variqueux osteohypertrophique, 328

Nager syndrome (preaxial acrofacial dysostosis), 182, 580–581

Nail anomalies

focal dermal hypoplasia-related, 259

Rubinstein-Taybi syndromerelated, 467

Nail patella, 34, 581

Nasal placodes, conjoined, 52, 53, 54 Nasolacrimal ducts. See also Lacrimal

system

Brachmann-de Lange syndromerelated obstruction of, 440 branchio-oculo-facial syndrome-

related anomalies of, 443

Neck, webbed, Wildervanck syndromerelated, 200

Nematode infections, ocular, 493–497 Nephritis, hereditary, Alport’s

syndrome-related, 434 Nerve fibers

medullated, craniosynostosisrelated, 162

Nestin, 19

Neural crest, as ocular tissue source, 7, 8, 10

Neural crest cells, 8

in anterior segment dysgenesis, 47 Neural folds, 3, 4, 7

Neural plate, 3, 4, 7 Neural tube, 3, 4, 7 Neurites, retinal, 26

Neurocristopathie, ocular, 47 Neurocutaneous syndromes, 291–343

ataxia-telangiectasia, 318–321, 528, 542

Klippel-Trenaunay-Weber syndrome, 328–331, 572

multiple endocrine neoplasia type 2B, 291, 335–339

neurofibromatosis type 1, 291–300 type 2, 300–304

Proteus syndrome, 291, 339–342 Sturge-Weber syndrome, 322–327 tuberous sclerosis complex,

304–311

von Hippel-Lindau disease, 311–318

Wyburn-Mason syndrome, 331–334