GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer.
Am J Med Genet A
; 161A(4): 829-34, 2013 Apr.
Article
em En
| MEDLINE
| ID: mdl-23494824
ABSTRACT
This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofias Ópticas Hereditárias
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Alopecia
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Transtornos do Crescimento
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Anodontia
Limite:
Adolescent
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Turquia