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

Neurofibromas

neurofibromatosis type 1-related, 295, 298, 299

neurofibromatosis type 2-related, 302

Neurofibromatosis

referrals and information resources regarding, 73

type 1, 291–300, 581–582 clinical assessment of,

297–298

diagnostic criteria for, 298 etiology of, 291–292 genetic factors in, 297, 299,

300

natural history of, 299 prognosis for, 300 systemic associations of,

298–299

treatment of, 299–300 type 2, 300–304, 582–583

clinical assessment of, 301–302

diagnostic criteria for, 303 etiology of, 301

genetic factors in, 303 ophthalmologic features of,

301

systemic associations of, 302–303

treatment of, 303 Neuromas

acoustic, 300

mucosal/oral, 335, 336, 338, 339 plexiform, 295, 296, 297 subconjunctival, 337

Neuronal ceroid-lipofuscinosis (Batten disease), 371, 390–393

Jansky-Bielschowsky disease, 391, 392

Kufs’ disease, 391, 393 Santavuori-Haltia disease, 391, 392 Spielmeyer-Sjögren disease, 391,

392–393 Neuron-specific enolase, 23

Neuroretina, maldevelopment of, in Proteus syndrome, 464

Neuroretinitis

cat-scratch disease-related, 483, 484, 485

syphilis-related, 490–491 toxoplasmosis-related, 498

Neurosyphilis, 491, 493

Nevoid basal cell carcinoma syndrome, 564–565

Nevus flammeus (facial angiomas), Sturge-Weber syndrome-related, 322, 324, 325, 326–327

Nevus of Jadahsson, 260

Nevus of Ota, 261–262

Nevus sebaceous of Jadassohn, 260–261 NF1 gene mutations, 291–292, 300 Niemann-Pick disease, cherry-red spots

associated with, 371

Night blindness, Cohen syndromerelated, 239

Niikawa-Kuroki syndrome. See Kabuki make-up syndrome

Noonan syndrome, 583

overlap with neurofibromatosis type 1, 298

Norrie’s disease, 583 Nose

bifid, frontonasal dysplasia-related, 175

Rubinstein-Taybi syndrome-related deformity, 465, 466, 467

Nucleotides, 77 Nystagmus

albinism-related, 251

Alström syndrome-related, 437 Cockayne syndrome-related, 258 metachromatic leukodystrophy-

related, 377

O

Obesity, Prader-Willi syndrome-related, 460, 462

Occipital horn syndrome, 559 Ochronosis, 252–253

Ocular dysgenesis, syndromes of, 33–55

anterior segment dysgenesis, 47–48 coloboma, 33, 36–42

congenital glaucoma, 48–49 cornea plana, 46 cryptophthalmos, 44–46 cyclopia, 36, 37, 52

dermoids and dermolipomas, 42–44 encephalocele, 54

exencephaly (anencephaly), 54 eye, brain, and face malformation

complexes, 51–52 frontonasal dysplasia, 54–55 holoprosencephaly, 52–54 microphthalmia, 33

Ocular dysgenesis, syndromes of (Continued)

persistent hyperplastic primary vitreous, 50

pupillary anomalies, 49–50 retinal dysplasia, 50 sclerocornea, 46–47 synophthalmia, 52

Ocular muscles

in Apert syndrome, 170

in Crouzon syndrome, 170 Oculo-auriculo-vertebral spectrum,

182–186

Oculocerebrorenal syndrome, 583 Oculodentodigital syndrome, 584 Oculo-dento-osseous dysplasia, 269–271 Oculodermal melanocytosis, 261–262 Oculomandibulodyscephaly, 191–194 OFD syndrome, 584

Omphaloceles, 608 Onychoosteodysplasia, 581 Ophthalmic artery, fetal, 27 Opitz-Frias syndrome, 584

Opitz G/BBB syndrome, 456–458 Opitz syndrome, types I and II, 584 Optic atrophy

Aicardi’s syndrome-related, 433– 434

craniosynostosis-related, 158 Crouzon syndrome-related, 169 incontinentia pigmenti-related,

256–257

Lyme disease-related, 489 metachromatic leukodystrophy-

related, 376–377

Sanfilippo syndrome-related, 365 Optic disc

edema of, neurofibromatosis type 1-related, 296

embryonic development of, 7, 10–12, 22, 23, 26

fetal alcohol syndrome-related abnormalities of, 190

Optic fissure

closure defects of. See also Colobomas

dermoids as, 42–43 failed or late closure, 33

embryonic development of, 12–13, 15

Optic nerve

Aicardi’s syndrome-related anomalies of, 431, 432

colobomas of, 33, 36, 38–39, 40, 41 Aicardi’s syndrome-related,

432

in craniosynostosis, 158 drusen of, Alström syndrome-

related, 438

embryonic development of, 12, 23–24, 30–32

granulomas of, cat-scratch diseaserelated, 484

hemangioblastomas of, von HippelLindau disease-related, 314

Lyme disease-related disorders of, 487

myelinization of, 31

in neurofibromatosis type 1, 294 in Sturge-Weber syndrome,

324–325

Optic nerve fibers, albinism-related abnormalities of, 398–399

Optic stalk, 12, 13, 20

Optic sulci, embryonic development of, 4, 5, 6, 8, 9, 10

Optic vesicle

in colobomatous microphthalmia, 33

embryonic development of, 8–12 Optiz-Kaveggia FG syndrome, 560 Oral-facial-digital syndrome, 584 Orbit

asymmetry of, 152 craniosynostosis-related dystopia

of, 157

hypertelorism of, 173–177 Klippel-Trenaunay syndrome-

related malformations of, 328 separation of, measurement of, 155 shallow, Carpenter’s syndrome-

related, 168 Oromandibular-limb hypogenesis

(OMLH) spectrum, 195, 584–585 Osteodystrophy, Albright hereditary,

527

Osteogenesis imperfecta, 148, 236–238, 585

Osteopetrosis (Albers-Schonberg disease), 271–272

Osteoporosis

Gaucher’s disease-related, 383 homocystinuria-related, 406 Menkes’ disease-related, 354

Otitis media, Kabuki make-up syndrome-related, 455

PITX2 homeobox transcription factor, 48

Plagiocephaly, 156, 170–173 deformational, 170, 207 frontal-type, 170, 172–173 synostotic, 171, 172

Platelet-derived growth factor, 19 Pleomorphic lamellar bodies, 373, 375 Point mutations, 78

Poland anomaly, 195–196 Poland syndrome, 195–196 Polycoria, 49–50

Polycystic kidney disease, 311 Polycythemia, von Hippel-Lindau

disease-related, 316 Polydactyly

Alström syndrome-related, 438 Carpenter syndrome-related, 168 definition of, 608 Rubinstein-Taybi syndrome-

related, 467

Polymicrogyria, fetal alcohol syndromerelated, 188

Polysyndactyly, ectrodactylyectodermal dysplasia-clefting (EEC) syndrome-related, 264

Port-wine stains (facial angiomas), Sturge-Weber syndrome-related, 322, 324, 325, 326–327

Postaxial acrofacial dysostosis, 577–578 Posterior polymorphous dystrophy, 48 Prader-Labhart-Willi syndrome, 459 Prader-Willi syndrome, 459–462

oculocutaneous albinism associated with, 249, 459, 461

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

Pregnancy, alcohol abuse during, 187 Primary cornea stroma, 20

Primary lens fibers, 16 Primitive streak, 1, 2

Professional kindness, in physicianparent interactions, 70

Progeria, 453, 587

Prognathism, 608

Progressive outer retinal necrosis syndrome (PORN), 515

Proptosis (exorbitism) craniosynostosis-related, 159, 160

surgical treatment of, 159, 161 measurement of, 152 neurofibromatosis type 1-related,

295

Proteinuria, Alport’s syndrome-related, 434

Proteus syndrome, 291, 339–342, 462– 465, 587–588

Pruritus, neurofibroma-related, 299 Pseudobular palsy, 351

Pseudocleft lip, branchio-oculo-facial syndrome-related, 443, 444, 446

Pseudo-Hurler Polydystrophy syndrome, 588

Pseudohypertelorism, 152 Pseudopolycoria, 50

Pseudotumor cerebri, galactokinase (GALT) deficiency-related, 411 Pseudoxanthoma elasticum, 227–230 genetic factors in, 227–230

management of, 229–230 Psychiatric disorders, homocystinuria-

related, 407

Pterygoid muscles, mandibulofacial dysostosis-related abnormalities of, 179–180

Ptosis

Apert syndrome-related, 165–166 branchio-oculo-facial syndrome-

related, 443

Carpenter syndrome-related, 168 fetal alcohol syndrome-related,

187, 189–190

mandibulofacial dysostosis-related, 180

Opitz G/BBB syndrome-related, 457

Waardenburg syndrome-related, 203

Ptosis surgery, secondary, after midface surgery, 164

p27(Kip 1), 50 Puberty

delayed, multiple endocrine neoplasia type 2B-related, 337

precocious, neurofibromatosis type 1-related, 295

Pupillary block, Marfan syndromerelated, 235

Pupillary membranes, persistent, 20, 21

Pupils

eccentric location (corectopia) of, 49

in Marcus-Gunn, KlippelTrenaunay syndrome, 328

multiple (polycoria), 49–50

Puppet-like movements, 554

Pyrimethamine, 500

R

Radial aplasia-thrombocytopenia syndrome, 588

Radiation, ataxia-telangiectasia-related sensitivity to, 320

Rapid plasma reagin test, for syphilis, 491

Rapp-Hodgkin ectodermal dysplasia syndrome, 588

Reconstructive surgery, for craniosynostosis, 163–164

Refraction, cycloplegic, in craniofacial syndrome patients, 151

Refractive errors albinism-related, 252 craniosynostosis-related, 161

fetal alcohol syndrome-related, 190, 191

Goldenhar’s syndrome-related, 185 Refsum’s disease (phytanic acid storage

disease), 254

Renal anomalies, CHARGE association-related, 449–450

Renal artery stenosis, as hypertension cause, 297, 299

Renal cell carcinoma, von HippelLindau disease-related, 312, 316, 317–318

Renal failure, Alström syndromerelated, 438–439

Renal transplantation, as Alport’s syndrome treatment, 437

Renal tubular acidosis II, 588–589 Respiratory disorders, craniosynotosis-

related, 158 Retina

avascular, in neonates, 28 disorders of

Alport’s syndrome-related, 436 Hurler-Scheie syndrome-

related, 362

tuberous sclerosis complexrelated, 305, 306

Walker-Warburg syndromerelated, 468, 469

embryonic development of, 12–13, 16, 24–28

vasculature development, 27–28

hypopigmentation of, 398

neurosensory, 12, 13, 14 Retinal arteries, embryonic

development of, 28

Retinal blood vessels, fetal alcohol syndrome-related tortuosity of, 190

Retinal detachment

cat scratch disease-related, 484 Kniest dysplasia-related, 243–244 Marfan syndrome-related,

235–236 syphilis-related, 490–491

Retinal pigment epithelium (RPE) defects of, colobomas associated

with, 37

embryonic development of, 11, 12, 14, 17, 24, 25, 26

Retinitis, rubella-related, 510–511 Retinitis pigmentosa

genetic heterogeneity of, 79 tuberous sclerosis complex-related,

305 Retinoblastoma, 589

Retinochoroiditis, toxoplasmosisrelated, 497, 498, 499, 500

Retinopathy

cystinosis-related, 404, 405 pigmentary, 37

Cockayne syndrome-related, 451

of prematurity, 28 “salt-and-pepper,” rubella-related,

511

Retrolenticular vascular membrane, 50

Rhabdomyomas, cardiac, tuberous sclerosis complex-related, 309

Rhizomelic chondrodysplasia punctata, 245–246

Rib anomalies, CHARGE associationrelated, 449

Rieger’s syndrome, 47, 589–590 PITX2 mutation-related, 48

Rifampin, 486

Ring chromosomes, 84–85 6, 99 11, 85, 87 12, 103 13, 104 14, 104 15, 105 17, 106 21, 108 22, 108

Robinow’s syndrome, 590 differentiated from Opitz G/BBB

syndrome, 458

Rods, embryonic development of, 26–27

Rothmund-Thomson syndrome, 590 Rubella, 506, 510–513 Rubinstein-Taybi syndrome, 34, 465–

468, 590

S

Saethre-Chotzen syndrome, 173, 590–591

Sagittal synostosis, 157 Sandhoff disease, 356, 361–362,

562–563

Sanfilippo syndrome, 591 Santavuori-Haltia disease, 391, 392 Saturn’s ring, 237–238 Scaphocephaly, 608

Scheie’s syndrome, 356, 361–362, 591 Schinzel-Giedion midface-retraction

syndrome, 591–592 Schlemm’s canal, 23

absent or abnormal lining of, 48 Schwalbe’s line

anterior displacement of, 47 in Marfan syndrome, 575–576

Schwannomas

neurofibromatosis type 2-related, 302

vestibular, 300, 302, 303 neurofibromatosis type 2-

related, 304 Schwannomin, 301 Schwart-Jampel syndrome, 592 Sclera

bilateral pigmentation of, ochronosis-related, 253

blue

Ehlers-Danos syndromerelated, 238

Hallermann-Streiff syndromerelated, 194

incontinentia pigmenti-related, 256

osteogenesis imperfectarelated, 237–238

embryonic development of, 23–24 Sclerocornea, 46–47

Sclerosteosis, 592

Scoliosis, homocystinuria-related, 406

Scotomas, myelinated nerve fibersrelated, 31

Seckel’s syndrome, 592 Secondary lens fibers, 18–19 Seizures

Aicardi’s syndrome-related, 430– 431, 433

Gaucher’s disease-related, 384 neurofibromatosis type 1-related,

298

neuronal ceroid-lipofuscinoses- related, 391, 392

Sturge-Weber syndrome-related, 326, 327

tuberous sclerosis complex-related, 308, 309–310

tyrosinemia-related, 401 Wyburn-Mason syndrome-related,

333–334

Self-mutilating behavior, Prader-Willi syndrome-related, 461

Septo-optic dysplasia, 35, 592–593 Sequence, definition of, 146 Sex-determining chromosomes, 82

aneuploidy of, 120–121 nondisjunction of, 83–84 Shah-Waardenburg syndrome, 202

Short stature

Cockayne syndrome-related, 451, 452

Hallermann-Streiff syndromerelated, 191

Kabuki make-up syndrome-related, 455, 456

Prader-Will syndrome-related, 459, 460

Sly syndrome-related, 367 SHORT syndrome, 593 Shprintzen-Goldberg craniosynostosis

syndrome, 594

Shprintzen syndrome, 593–594 Sialidosis, 371

Sialidosis syndrome, 579 Sialolipidosis syndrome, 594 Simpson-Golabi-Behmel syndrome,

type I, II, 594 Sjögren-Larsson syndrome, 254 Skeletal anomalies

CHARGE association-related, 449

homocystinuria-related, 406 Kabuki make-up syndrome-related,

454

Skeletal anomalies (Continued) Rubinstein-Taybi syndrome-

related, 467

Skeletal dysplasias, 269–272 oculo-dento-osseous dysplasia,

269–271

osteopetrosis (Albers-Schonberg disease), 271–272

Skin disorders, 249–269 albinism, 249–252

Cockayne syndrome, 257–259 ectodermal dysplasia, 264–266 erythema multiforme, 268–269 focal dermal hypoplasia, 259–260 ichthyosis, 253–255 incontinentia pigmenti, 255–257 juvenile xanthogranuloma,

266–268

linear nevus sebaceous, 260–261 ochronosis, 252–253 oculodermal melanocytosis,

261–262 Stevens-Johnson syndrome,

268–269

xeroderma pigmentosum, 262–264 Skull shape, in Apert syndrome, 164 Sleep apnea, Prader-Willi syndrome-

related, 461

Sly syndrome, 357, 367, 580 Smith, Robert William, 291

Smith-Lemli-Opitz syndrome, type I, 595

Soft-tissue tumors, Proteus syndromerelated, 463–464

Somites, embryonic development of, 5, 8

Somitomeres, 8, 32 Sonic hedgehog gene, 179 Sotos syndrome, 595

Spasms, infantile, Aicardi’s syndromerelated, 430–431

Speech delay, Brachmann-de Lange syndrome-related, 441

Spherophakia, Weill-Marchesani syndrome-related, 238–239 Spielmeyer-Sjögren disease, 391,

392–393

Spina bifida, hemifacial microsomiarelated, 183

Spondylocarpotarsal synostosis syndrome, 595

Spondyloepiphyseal dysplasia congenita, 595

Spondyloepiphyseal dysplasia tarda, 595–596

Spranger’s syndrome, 579

Squamous cell carcinoma, xeroderma pigmentosum-related, 263

Status epilepticus, tuberous sclerosis complex-related, 310

Stevens-Johnson syndrome, 268–269 Stickler syndrome, 147, 151, 240–242,

240–243

relationship with Marshall syndrome, 576, 596

type I, 596–597 Strabismus

albinism-related, 252, 399 amniotic band sequence-related,

208–209

Brachmann-de Lange syndromerelated, 440, 442

branchio-oculo-facial syndromerelated, 443

chromosomal abnormalities associated with, 87

craniosynostosis-related, 157, 161–162

fetal alcohol syndrome-related, 187

Gaucher’s disease-related, 384 Goldenhar’s syndrome-related,

185

Hallermann-Streiff syndromerelated, 193–194

hypertelorism associated with, 35, 174

Marfan syndrome-related, 235 Möbius sequence-related, 196 plagiocephaly-related, 172 Prader-Willi syndrome-related,

459

toxocariasis-related, 495, 497 V-pattern, Apert syndrome-related,

165–166

Streeter bands, 207–209

Sturge-Weber syndrome, 322–327, 597 etiology of, 322

ophthalmologic features of, 322–326

treatment of, 327

Subacute sclerosing panencephalitis, 508, 509, 510

Superior oblique muscle palsy, congenital, 206

Symphalangism, 580, 608

Trisomy syndromes (Continued) 18 (Edward’s syndrome), 93–94,

599–600

21. See Down syndrome 22, 95

definition of, 83 partial, 85, 87

Trust, in physician-parent interactions, 69

Truth, in physician-parent interactions, 68

Tuberous sclerosis complex, 304–311 clinical assessment of, 307–308 etiology of, 305

genetic factors in, 305, 309 natural history of, 309–310 ophthalmologic features of,

305–307

systemic associations of, 308–309 treatment of, 310–311

Tunica vasculosa lentis, 19–20, 21 Turner-like syndrome, 583 Turner’s syndrome, 120–121, 605

chromosomal analysis of, 82–83 Turricephaly, 608

Twins, monozygotic, Aicardi’s syndrome in, 433

Tyrosinase deficiency, albinism-related, 249, 394–395, 396

Tyrosinemia, 399–401 oculocutaneous, 400–401

Tzanck smear, 503

U

Ultraviolet light sensitivity, Cockayne syndrome-related, 450

Unknown genesis syndrome, 148 Upper airway obstruction, Hallermann-

Streiff syndrome-related, 192–193 Uridine diphosphate galactose-4’

epimerase (GALE) deficiency, 411– 412

Usher syndrome, 600–601

Uvea, Prader-Willi syndrome-related hypopigmentation of, 459

Uveitis

cat scratch disease-related, 484 Hallermann-Streiff syndrome-

related, 194

Lyme disease-related, 487, 489 syphilis-related, 490–491, 492–493 toxocariasis-related, 493 toxoplasmosis-related, 498

V

Varicella-zoster virus, 513–518 Vascular disruption, as Möbius syndrome cause, 197–198

Venereal Disease Research Laboratory (VDRL) test, for syphilis, 491

Ventriculomegaly

Aicardi’s syndrome-related, 431 Kabuki make-up syndrome-related,

455 Vertebral anomalies

CHARGE association-related, 449 homocystinuria-related, 406 Proteus syndrome-related, 464–465

Vigabatrin, 378

Vimentin, 12, 19

Viral diseases, 501–518

herpes simplex virus, 501–505 lymphocytic choriomeningitis

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

Virchow, Rudolf, 155 Visual acuity defects

albinism-related, 252 toxocariasis-related, 495 toxoplasmosis-related, 500

Visual evoked potentials (VEPs) in Aicardi’s syndrome, 432 in craniosynostosis, 158

in Menkes’ disease, 355

in Prader-Willi syndrome, 459 Visual field testing, in craniofacial

anomaly patients, 152 Visual loss/impairment

Alström syndrome-related, 437, 439

cat-scratch disease-related, 486 craniosynostosis-related, 158 Goldenhar’s syndrome-related, 185 reconstructive facial surgery-

related, 163–164

referrals and information resources regarding, 73–74

rubella-related, 513 toxocariasis-related, 497

Vitamin A, teratogenicity of, 180 Vitamin A deficiency, 508 Vitamin B6, as homocystinuria

treatment, 248, 409

Vitamin E, as ataxia-telangiectasia treatment, 321