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

TABLE 10-1. (continued).

Deletion 13q Syndrome Group 1, 2, and 3 Deletion 15q (deletion of maternal allele) Deletion 15q (deletion of paternal allele)

Deletion 18p Syndrome

Deletion 18q Syndrome

Derry disease—see Generalized Gangliosidosis Syndrome (GM1), Type II (Juvenile Type)

Desbuquois Syndrome—see Larsen’s Syndrome

DiGeorge Sequence

Distal Arthrogryposis Syndrome, Type II Distichiasis Syndrome Distichiasis-Lymphedema Syndrome

Donohue’s Syndrome—see Leprechaunism Down Syndrome—see Trisomy 21

Duane Retraction Syndrome 1 (DURS1)—see Duane/Radial Dysplasia Syndrome

Duane/Radial Dysplasia Syndrome Dubowitz Syndrome

Duplication 3q Syndrome

Duplication 4p Syndrome

Duplication 9p Syndrome

Duplication 10q Syndrome

Duplication 15q Syndrome

Dwarfism-Mulibrey Type—see Mulibrey Nanism Syndrome

Dyskeratosis Congenita Syndrome

Dysmorphic Sialidosis Syndrome—see Mucolipidosis Type I, Subtypes I, II Dystrophia Myotonica Syndrome—see Steinert Myotonic Dystrophy Syndrome

E

Ectodermal Dysplasia 1—see Hypohidrotic Ectodermal Dysplasia Syndrome Ectodermal Dysplasia 2—see Clouston Syndrome

Ectodermal Dysplasia-Hidrotic—see Clouston Syndrome

Ectopia Lentis et Pupillae

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome I

Edwards’ Syndrome—see Trisomy 18 Syndrome

Ehlers–Danlos Syndrome Type I, II, III, IV, V, VI, VII, VIII, IX, X

Elejalde Syndrome—see Acrocephalopolydactylous Dysplasia Encephalofacial Angiomatosis Syndrome—see Sturge–Weber Syndrome (SWS)

Escobar Syndrome

Exomphalos-Macroglossia-Gigantism Syndrome—see Beckwith–Wiedemann Syndrome

F

Facial Diplegia, Congenital—see Möbius Syndrome I, II, III Facio-Digito-Genital Dysplasia Syndrome—see Aarskog Syndrome Facio-Oculo-Auriculo-Vertebral (FOAV) Dysplasia—see Goldenhar Syndrome Familial Blepharophimosis Syndrome—see Blepharophimosis Syndrome (BPS) Familial Neurovisceral Lipidosis—see Generalized Gangliosidosis Syndrome

(GM1), Type I (Severe Infantile Type)

Fanconi Pancytopenia Syndrome, Complementation Group A,B,C,D1,D2,E,F Femoral Hypoplasia-Unusual Facies Syndrome

Femoral-Facial Syndrome—see Femoral Hypoplasia-Unusual Facies Syndrome

(continued)

TABLE 10-1. (continued).

J

Jackson–Weiss Syndrome

Jacobsen Syndrome—see Deletion 11q Syndrome

Jarcho–Levin Syndrome

Jeune Thoracic Dystrophy

Johanson–Blizzard Syndrome

Joubert Syndrome

K

Kabuki Syndrome

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant—see Kid Syndrome, Autosomal Dominant

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive—see Kid Syndrome, Autosomal Recessive

Kid Syndrome, Autosomal Dominant

Kid Syndrome, Autosomal Recessive Killian/Teschler–Nicola Syndrome

Kivlin–Krause Syndrome—see Peters’ Anomaly with Short-Limb Dwarfism

Klippel–Trenaunay–Weber Syndrome (KTW Syndrome) Kniest Dysplasia

L

Lacrimo-Auriculo-Dento-Digital Syndrome, LADD Syndrome—see Levy–Hollister Syndrome

Langer–Giedion Syndrome Larsen’s Syndrome

Laurence–Moon–Bardet–Biedl Syndrome—see Bardet–Biedl Syndrome

Leber’s Congenital Amaurosis, Type I, II, III, IV, V Lenz–Majewski Hyperostotic Dwarfism

Leopard Syndrome—see Multiple Lentigines Syndrome

Leprechaunism Donohue Syndrome

Leroy I-Cell Syndrome—see Mucolipidosis Type II

Levy–Hollister Syndrome

Linear Nevus Sebaceous of Jadassohn

Lipodystrophy, Partial, with Rieger Anomaly, Short Stature, and Insulinopenic Diabetes Mellitus

Louis–Bar Syndrome—see Ataxia-Telangiectasia Syndrome Lowe Syndrome—see Oculocerebrorenal Syndrome

M

Mandibulofacial Dysostosis—see Treacher Collins Syndrome

Marden–Walker Syndrome

Marfan Syndrome

Marfanoid Craniosynostoisis Syndrome—see Shprintzen–Goldberg

Craniosynostosis Syndrome

Marker X Syndrome—see Fragile X Syndrome

Maroteaux–Lamy Syndrome

Marshall Syndrome

Marshall–Smith Syndrome

Martin–Bell Syndrome—see Fragile X Syndrome

Median Cleft Face Syndrome—see Frontonasal Dysplasia Sequence

(continued)

TABLE 10-1. (continued).

Oral-Facial-Digital Syndrome 1

Oromandibular-Limb Hypogenesis Spectrum

Osteogenesis Imperfecta Syndrome, Type I

Oto-Palato-Digital Syndrome, Type I

P

Pachyonychia Congenita Syndrome, Type 1 Pallister–Hall Syndrome

Pallister–Killian Syndrome—see Killian/Teschler–Nicola Syndrome Pancytopenia Syndrome, Fanconi Type—see Fanconi Pancytopenia Syndrome,

Complementation Group A,B,C,D1,D2,E,F Patau Syndrome—see Trisomy 13 Syndrome

Pena–Shokeir Syndrome, Type 1

Pena–Shokeir Syndrome, Type II—see Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome

Penta X Syndrome—see XXXXX Syndrome Peppe Syndrome—see Cohen Syndrome

Perheentupa Syndrome—see Mulibrey Nanism Syndrome Perinatal Lethal Hypophosphatasia—see Hypophosphatasia

Peters’ Anomaly—Associated with Other Ocular Defects Peters’ Anomaly—Isolated Ocular Abnormality

Peters’ Anomaly with Short-Limb Dwarfism Peters’-Plus Syndrome

Pfeiffer’s Syndrome, Type I, II, III

Pitt–Rogers–Danks Syndrome (PRDS)—see Deletion 4p Syndrome Poikiloderma Congenitale Syndrome—see Rothmund–Thomson Syndrome Postaxial Acrofacial Dysostosis—see Miller Syndrome

Prader–Willi Syndrome—see Deletion 15q (deletion of paternal allele)

Progeria Syndrome

Progressive Diaphyseal Dysplasia—see Camurati–Engelmann Syndrome

Proteus Syndrome

Pseudoglioma—see Norrie’s Disease

Pseudo-Hurler Polydystrophy Syndrome

R

Radial Aplasia-Thrombocytopenia Syndrome Rapp–Hodgkin Ectodermal Dysplasia Syndrome Renal Tubular Acidosis II

Renal Tubular Acidosis, Proximal, with Bilateral Glaucoma, Cataract, and Band

Keratopathy—see Renal Tubular Acidosis II

Retinoblastoma, RB1

Rhizomelic Chondrodysplasia Punctata, Type II—see Chondrodysplasia Punctata, Autosomal Recessive Type

Rieger’s Syndrome, Type I, II

Riley–Smith Syndrome—see Bannayan–Riley–Ruvalcaba Syndrome

Robinow’s Syndrome

Rosenthal–Kloepfer Syndrome—see Acromegaloid Phenotype-Cutis Verticis Gyrata-Corneal Leukoma

Rothmund–Thomson Syndrome Rubinstein–Taybi Syndrome

Ruvalcaba–Myhre Syndrome—see Bannayan–Riley–Ruvalcaba Syndrome

(continued)

TABLE 10-1. (continued).

U

Usher Syndrome Type I (A to F), II (A, B, C), Type III

V

VATER Association

Velo-Cardio-Facial Syndrome—see Shprintzen Syndrome von Hippel–Lindau Disease

Von Recklinghausen Disease—see Neurofibromatosis, Type I (NF-1)

W

Waardenburg Anophthalmia Syndrome—see Anophthalmia with Limb Anomalies

Waardenburg’s Syndrome, Types I, IIA, IIB, III, and IV

Waardenburg-Ocular Albinism—see Waardenburg’s Syndrome WAGR Syndrome—see Deletion 11p Syndrome

Walker–Warburg Syndrome

Warburg Syndrome—see Walker–Warburg Syndrome Warkany Syndrome—see Trisomy 8 Syndrome

Weaver Syndrome Weill–Marchesani Syndrome Werner Syndrome

Whistling Face Syndrome—see Freeman–Sheldon Syndrome Wildervanck Syndrome—see Cervico-Oculo-Acoustic Syndrome

Williams Syndrome

Williams–Beuren Syndrome—see Williams Syndrome Wolf–Hirschhorn Syndrome (WHS)—see Deletion 4p Syndrome

X

Xeroderma Pigmentosum Syndrome (Group A through I plus a variant) X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

X-Linked Spondyloepiphyseal Dysplasia—see Spondyloepiphyseal Dysplasia Tarda

XO Syndrome

XXX and XXXX Syndrome XXXXX Syndrome

XXXY and XXXXY Syndromes

Y

Yunis–Varon Syndrome

Z

Zellweger Syndrome

Zinsser–Cole–Engman Syndrome—see Dyskeratosis Congenita Syndrome

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited

Syndromes.

Aarskog Syndrome Facio-Digito-Genital Dysplasia Syndrome MIM 100050, *305400

Gene map locus: Xp11.21. Inheritance: X-linked recessive, with carrier females showing some minor manifestations of the disorder. One hundred cases reported.

General Description: short stature, brachydactyly, shawl scrotum

Ocular Findings

Common: hypertelorism (90%), variable ptosis of eyelids (50%), slight downslanting palpebral fissures

Less common: strabismus, hyperopic astigmatism, latent nystagmus, blue sclera, posterior embryotoxon, corneal enlargement

Aase Syndrome MIM 205600 Inheritance: most likely autosomal recessive. Over 10 cases reported.

General Description: triphalangeal (finger-like) thumbs, congenital hypoplastic anemia

Ocular Findings: occasional downslanting palpebral fissures, occasional retinopathy

Aase–Smith Syndrome MIM *147800 Inheritance: autosomal dominant. Five cases reported.

General Description: cleft palate, joint contractures, Dandy–Walker malformation

Ocular Findings

Common: short palpebral fissures, ptosis in adulthood

Less common: oculomotor palsy

Abetalipoproteinemia Bassen–Kornzweig disease MIM #200100 Gene map locus: 4q22–q24. Inheritance: autosomal recessive. Rare.

General Description: intestinal fat malabsorption with poor absorption of vitamins A and E, progressive ataxia, peripheral neuropathy, acanthocytosis, anemia, congestive heart failure, cardiac dysarrhythmias, abnormal levels of plasma lipids. Onset occurs between 5 and 15 years of age with ataxia, steatorrhea, hepatosplenomegaly, and psychomotor retardation. Results from absence of plasma apolipoproteins, plasma apolipoprotein B-containing lipoproteins, and microsomal triglyceride transfer protein from the endoplasmic reticulum of hepatocytes and enterocytes.

Ocular Findings

Common: pigmentary degeneration of the retina usually develops in the early teens but may present at any age (50%). Electroretinographic findings often are subnormal before the appearance of ophthalmoscopic changes. Funduscopic changes are similar to retinitis pigmentosa in some and to retinitis punctata albescens in others. The macula may or may not be affected. Patients complain of decreased vision and nyctalopia. Vitamin A and E supplementation have been reported to have beneficial retinal effects.

Less common: strabismus, nystagmus, angioid streaks, subretinal neovascularization, cataract, ptosis

TABLE 10-2. (continued).

Ablepharon-Macrostomia Syndrome MIM 200110 Inheritance: possibly autosomal recessive or X-linked recessive. Three cases reported.

General Description: macrostomia, sparse hair, thickened skin, absent or small nipples, genital anomalies, absent zygomatic arches

Ocular Findings: absent eyebrows, absent upper and lower eyelids and eyelashes, corneal irritation and dryness due to lack of eyelids

Abruzzo–Erickson Syndrome CHARGE-Like Syndrome MIM 302905 Inheritance: X-linked inheritance or autosomal dominant with milder expression in females. Four cases reported.

General Description: cleft palate, coloboma of iris and/or retina, deafness, hypospadias, radial synostosis, short stature

Ocular Findings: coloboma of iris and/or retina, anterior segment dysgenesis, epicanthal folds, esotropia

Acrocallosal Syndrome, Schinzel Type MIM *200990 Gene map locus: 12p13.3–p11.2. Inheritance: autosomal recessive. Fifteen cases reported.

General Description: hypoplastic or absent corpus callosum, seizures, hypotonia, severe mental retardation, hydrocephaly, postaxial polydactyly of hands and feet, hallux duplication. Neonatal respiratory distress and intercurrent infections lead to early death in approximately 15% of patients.

Ocular Findings

Common: optic atrophy, decreased retinal pigmentation, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus

Less common: nystagmus

Acrocephalopolydactylous Dysplasia Elejalde Syndrome MIM 200995 Inheritance: probably autosomal recessive. Fifteen cases reported.

General Description: craniosynostosis producing turricephaly; macrosomia, thick skin, severe lung hypoplasia, renal dysplasia, short limbs, polydactyly. Diagnosis by histological demonstration of overgrowth of connective tissue in different organs.

Ocular Findings

Common: hypertelorism, epicanthal folds

Less common: microcornea, corneal opacity, optic atrophy, nystagmus, foveal hypoplasia, posterior embryotoxon

Acrodysostosis MIM *101800 Inheritance: autosomal dominant. Over 20 cases reported.

General Description: short hands with peripheral dysostosis, short stature, vertebral defects, small nose, mental deficiency

Ocular Findings: epicanthal folds (39%), hypertelorism (35%). Optic atrophy has been reported.

Acro-Fronto-Facio-Nasal Dysostosis Syndrome MIM 201180, 239710 Inheritance: autosomal recessive suggested. Eight cases reported.

General Description: frontonasal dysplasia with skeletal anomalies and polydactyly in a severely retarded child

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

Ocular Findings: hypertelorism, S-shaped palpebral fissures, ptosis, long eyelashes

Acromegaloid Facial Appearance Syndrome MIM *102150 Inheritance: autosomal dominant with complete penetrance. One family described.

General Description: progressive acromegaloid facial appearance

Ocular Findings: progressively thickened periorbital skin, narrow palpebral fissures secondary to thickened skin around the eyes, blepharophimosis, hypertelorism, synophrys, highly arched eyebrows

Acromegaloid Phenotype-Cutis Verticis Gyrata-Corneal Leukoma

Rosenthal–Kloepfer Syndrome MIM *102100 Inheritance: autosomal dominant. One family described.

General Description: progressive leukoma formation and gyrate convolutions of the scalp in association with acromegaly-like features including large hands and feet, large chin, tall stature. Soft skin, “split ridge” dermal ridge pattern, cutis verticis gyrata with longitudinal folding.

Ocular Findings: unilateral or bilateral progressive opacification of the cornea occurs during the first decade of life. It characteristically begins in the inferonasal quadrant of the corneal epithelium as a flat leukoma, which subsequently becomes slightly elevated (about 0.5 mm) and considerably more widespread, leading to blindness. The peripheral 1 mm of the cornea is usually spared. The lateral half of the supraorbital arch of the frontal bone is enlarged.

Acromesomelic Dysplasia, Maroteaux–Martinelli–Campailla Type

Acromesomelic Dwarfism MIM *602875 Gene map locus: 9p13–p12. Inheritance: autosomal recessive. Approximately 30 cases reported.

General Description: disproportionate short stature with relatively large head, short forearms, small hands and feet, short fingers, general joint laxity except at elbows, radial head dislocation, characteristic skeletal X-rays

Ocular Findings: corneal opacities have been reported

Acromicric Dysplasia MIM 102370 Inheritance: probably autosomal dominant. Fewer than 10 cases reported.

General Description: dwarfism, with markedly shortened hands and feet. Mild facial anomalies including short, stubby nose with anteverted nostrils

Ocular Findings: narrow palpebral fissures

Acro-Reno-Ocular Syndrome MIM 102490 Inheritance: autosomal dominant. A three-generation family has been reported.

General Description: Duane syndrome, radial ray anomalies such as thenar hypoplasia and thumb anomalies, kidney malformations including malrotation, ectopia, hypoplasia, or ureterovesicular reflux

Ocular Findings

Common: Duane syndrome

Less common: Optic nerve coloboma, iris coloboma, ptosis, microcornea, cataract, strabismus, and nystagmus have been reported.