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

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asterisked entries and that the mode of inheritance of the phenotype has been proven. The prefix (#) indicates that the same phenotype can be caused by mutation in any of two or more genes. After the MIM number, the affected gene location is indicated, when known, followed by the mode of inheritance and the incidence or number of cases reported.

A general description of the syndrome featuring systemic manifestations is then provided, followed by pertinent ocular findings. Ocular findings are separated between “common” and “less common.” Under “less common” abnormalities, reported sporadic abnormalities are listed that are not necessarily related to the disease. Findings that are in quotation marks are listed as they were originally described (often not in ophthalmologic nomenclature). A glossary of terms associated with inherited diseases precedes the tables.

Jablonski’s Multiple Congenital Abnormality/Mental Retardation website at http://www.nlm.nih.gov/mesh/jablonski/ syndrome_title.html is another fine resource for additional information.

Glossary

The following terms are associated with inherited diseases.

Acanthocytosis a rare condition in which the majority of erythrocytes are acanthocytes; a thorny or peculiarly spiny erythrocyte characterized by multiple spiny cytoplasmic projections. Commonly seen in abetaliproproteinemia.

Acrocephaly see oxycephaly.

Anencephaly congenital absence of most of the brain and spinal cord.

Aplasia cutis congenita congenital absence or deficiency of a localized area of skin, with the base of the defect covered by a thin translucent membrane.

Arachnodactyly a hereditary condition characterized by excessive length of the fingers and toes.

Argyria permanent dark discoloration of skin caused by overuse of medicinal silver preparations.

Arhinencephaly an absence or rudimentary state of the rhinoencephalon, or olfactory lobe of the brain, on one or both sides, with a corresponding lack of development of the external olfactory organs.

Arthrogryposis the permanent fixation of a joint in a contracted position. A congenital disorder marked by generalized stiffness of the joints, often accompanied by muscle and nerve degeneration, which results in severely impaired mobility of the limbs.

Bathocephaly craniosynostosis involving the posterior sagittal suture.

Brachycephaly having a short, broad head with a cephalic index over 80.

Brachydactyly having abnormally short fingers or toes. Camptodactyly permanent flexion of one or more finger

joints.

Clinodactyly a deformity of the hand marked by deviation or deflection of the fingers.

Craniosynostosis premature fusion of the sutures of the skull. Cutis marorata marble-like mottling of the skin on exposure

to cold, common in children and some adults. Dandy–Walker Syndrome hydrocephalus in infants associated

with atresia of the foramen of Magendie.

Ectrodactyly congenital complete or partial absence of one or more digits.

Holoprosencephaly failure of the forebrain to divide into hemispheres or lobes.

Hypodactyly small fingers and/or toes.

Klippel–Feil Syndrome congenital fusion of the cervical vertebrae resulting in a short and relatively immobile neck.

Metaphysis the transitional zone at which the diaphysis and epiphysis of a bone come together.

Micrognathia abnormal smallness of jaw.

Omphalocele protrusion of abdominal contents through an opening at the navel, occurring especially as a congenital defect.

Oxycephaly a congenital abnormality of the skull in which the top of the head assumes a conical or pointed shape. Also called: acrocephaly, turricephaly.

Polydactyly the condition of having more than the normal number of toes or fingers.

Prognathism a jaw that projects forward to a marked degree. Scaphocephaly a congenital deformity of the skull in which

the vault is narrow, elongated, and boat-shaped because of premature ossification of the sagittal suture.

Symphalangism ankylosis of the joints of one or more digits. Syndactyly a congenital anomaly in humans characterized by

two or more fused fingers or toes.

Synostosis the fusion of normally separate skeletal bones. Tapetoretinal of, relating to, or involving both tapetum and

retina.

Tapetum a membranous layer or region, especially the iridescent membrane of the choroid.

Trigonocephaly congenital deformity in which the head is somewhat triangular and flat.

Turricephaly see oxycephaly.

TABLE 10-1. Syndromes with Prominent Ocular Findings and Their Alternative Names.

2q Syndrome—see Deletion 2q Syndrome (2q33.3–q34)

3p Syndrome—see Deletion 3p Syndrome

3q Syndrome—see Duplication 3q Syndrome

4p Syndrome—see Deletion 4p Syndrome

4q Syndrome—see Deletion 4q Syndrome

5p Syndrome—see Deletion 5p Syndrome

9p Syndrome—see Deletion 9p Syndrome

10q Syndrome—see Duplication 10q Syndrome

11p Syndrome—see Deletion 11p Syndrome

13q Syndrome—see Deletion 13q Syndrome

15q Syndrome—see Deletion 15q Syndrome

18p Syndrome—see Deletion 18p Syndrome

18q Syndrome—see Deletion 18q Syndrome

A

Aarskog Syndrome Aase Syndrome Aase–Smith Syndrome Abetalipoproteinemia

Ablepharon–Macrostomia Syndrome Abruzzo–Erickson Syndrome Acrocallosal Syndrome, Schinzel Type Acrocephalopolydactylous Dysplasia

Acrocephalopolysyndactyly Type 2—see Carpenter Syndrome Acrocephalopolysyndactyly Type 4—see Goodman Syndrome Acrocephaloysyndactyly Type 1—see Apert Syndrome Acrocephaloysyndactyly Type 5—see Pfeiffer Syndrome

Acrodysostosis

Acrofacial Dysostosis 1, Nager Type—see Nager Syndrome Acrofacial Dysplasia—see Geleophysic Dysplasia

Acro-Fronto-Facio-Nasal Dysostosis Syndrome Acromegaloid Facial Appearance Syndrome

Acromegaloid Phenotype–Cutis Verticis Gyrata–Corneal Leukoma

Acromesomelic Dwarfism—see Acromesomelic Dysplasia, Maroteaux–Martinelli–Campailla Type

Acromesomelic Dysplasia, Maroteaux–Martinelli–Campailla Type Acromicric Dysplasia

Acro-Osteolysis Syndrome—see Hajdu–Cheney Syndrome

Acro-Reno-Ocular Syndrome

Adams–Oliver Syndrome

AEC Syndrome—see Hay–Wells Syndrome of Ectodermal Dysplasia Aglossia-Adactyly Syndrome—see Oromandibular-Limb Hypogenesis Spectrum

Aicardi’s Syndrome

Alagille Syndrome—see Arteriohepatic Dysplasia

Albright Hereditary Osteodystrophy

Angelman Syndrome—see Deletion 15q (deletion of maternal allele)

Angio-Osteohypertrophy Syndrome—see Klippel–Trenaunay–Weber Syndrome

(KTW Syndrome)

Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome—see Hay–Wells Syndrome of Ectodermal Dysplasia

TABLE 10-1. (continued).

Anophthalmia with Limb Anomalies Antley–Bixler Syndrome

Apert Syndrome Arteriohepatic Dysplasia

Arthro-Ophthalmopathy, Hereditary, Progressive, Stickler Type (AOM), Membranous Vitreous Type—see Stickler Syndrome

Asphyxiating Thoracic Dystrophy—see Jeune Thoracic Dystrophy

Ataxia-Telangiectasia Syndrome

ATR-X Syndrome—see X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

Axenfeld–Rieger Anomaly with Atrial Septal Defect and Sensorineural Hearing Loss

Axenfeld–Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities

B

Baller–Gerold Syndrome

Bannayan Syndrome—see Bannayan–Riley–Ruvalcaba Syndrome

Bannayan–Riley–Ruvalcaba Syndrome Bardet–Biedl Syndrome Type I–VI

Bassen–Kornzweig disease—see Abetalipoproteinemia

Beals’ Syndrome Beckwith–Wiedemann Syndrome Berardinelli–Lipodystrophy Syndrome

Berardinelli–Seip Congenital Lipodystrophy Syndrome—see Berardinelli–Lipodystrophy Syndrome

Berman’s Syndrome—see Sialolipidosis Syndrome

Bernheimer–Seiteberger disease—see Gangliosidosis Syndrome (GM2), Type III Beta-Glucuronidase Deficiency—see Mucopolysaccharidosis Type VII Syndrome Bird-Headed Dwarfism—see Seckel’s Syndrome

Blepharophimosis Syndrome (BPS) Type I, II, III

Bloch–Sulzberger Syndrome—see Incontinentia Pigmenti Syndrome

Borjeson–Forssman–Lehmann Syndrome Boston-Type Cranisynostosis Brachmann–de Lange Syndrome

Brachydactyly-Spherophakia Syndrome—see Weill–Marchesani Syndrome

Branchio-Oculo-Facial Syndrome

Branchio-Oto-Renal (BOR) Syndrome—see Melnick–Fraser Syndrome

C

Caffey Pseudo-Hurler Syndrome—see Generalized Gangliosidosis Syndrome

(GM1), Type I (Severe Infantile Type)

Campomelic Dysplasia

Camptodactyly-Cleft-Palate-Club Foot, Gordon Type—see Distal Arthrogryposis

Syndrome, Type II

Camurati–Engelmann Syndrome

Cardiac-Limb Syndrome—see Holt–Oram Syndrome

Cardio-Facio-Cutaneous Syndrome

Carpenter Syndrome

Cat-Eye Syndrome (CES)

Cerebellar Parenchymal Disorder, Type IV—see Joubert Syndrome

(continued)

TABLE 10-1. Syndromes with Prominent Ocular Findings and Their Alternative Names (continued).

Cerebral Gigantism Syndrome—see Sotos Syndrome Cerebro-Hepato-Renal Syndrome—see Zellweger Syndrome

Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome Cervico-Oculo-Acoustic Syndrome

CFC Syndrome—see Cardio-Facio-Cutaneous Syndrome

CHARGE Association

CHARGE-Like Syndrome—see Abruzzo–Erickson Syndrome Cheney Syndrome—see Hajdu–Cheney Syndrome

Chondrodysplasia Punctata, Autosomal Recessive Type

Chondrodysplasia Punctata, X-Linked Dominant Type

Chondrodysplasia Punctata, X-Linked Recessive Type

Chondrodystrophica Myotonia Syndrome—see Schwart–Jampel Syndrome, Type 1

Cleft Lip Sequence Cleidocranial Dysostosis

Cleidocranial Dysplasia—see Cleidocranial Dysostosis

Clouston’s Syndrome Cockayne’s Syndrome, Type I Coffin–Lowry Syndrome Coffin–Siris Syndrome Cohen Syndrome

Coloboma of Iris-Anal Atresia Syndrome—see Cat-Eye Syndrome (CES) Conradi–Hunermann Syndrome—see Chondrodysplasia Punctata, X-Linked

Dominant Type

Contractual Arachnodactyly, Congenital—see Beals Syndrome Cornelia de Lange Syndrome—see Brachmann–de Lange Syndrome Craniodiaphyseal Dysplasia-Lenz–Majewski Type—see Lenz–Majewski

Hyperostotic Dwarfism

Craniofacial Dysostosis—see Crouzon Syndrome

Craniofrontonasal Dysostosis—see Craniofrontonasal Dysplasia (CFND)

Craniofrontonasal Dysplasia (CFND) Craniometaphyseal Dysplasia

Craniosynostosis-Foot Defects, Jackson–Weiss Type—see Jackson–Weiss Syndrome

Craniosynostosis-Radial Aplasia Syndrome—see Baller–Gerold Syndrome Cri-du-Chat Syndrome—see Deletion 5p Syndrome

Crouzon Syndrome

Cryptophthalmos Syndrome—see Fraser Syndrome

D

De Grouchy Syndrome—see Deletion 18q Syndrome

De Morsier Syndrome—see Septo-Optic Dysplasia Sequence

Deafness-Myopia-Cataract-Saddle Nose, Marshall Type—see Marshall Syndrome

Deletion 2q Syndrome (2q33.3–q34)

Deletion 3p Syndrome

Deletion 4p Syndrome

Deletion 4q Syndrome

Deletion 5p Syndrome

Deletion 9p Syndrome

Deletion 11p Syndrome

Deletion 11q Syndrome