Variability of Stickler syndrome.
Am J Med Genet
; 42(3): 337-9, 1992 Feb 01.
Article
em En
| MEDLINE
| ID: mdl-1536174
ABSTRACT
Stickler syndrome is a dominantly inherited disorder characterized by ocular and nonocular manifestations. The phenotype of the affected patients is known to be variable. Our study of 3 families and a review of the literature show that the variability is mostly interfamilial while in each family less variability is present. In one family all the patients had high myopia and most developed a retinal detachment at a young age. In the second family the major symptoms were cleft palate and characteristic facial changes in presence of mild ocular changes. In the third family, all patients had a marfanoid habitus, high myopia, and mental retardation. Interfamilial variability coupled with intrafamilial similarities in clinical manifestation may indicate that the so-called Stickler syndrome represents in fact a phenotype and not a single genetic entity.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Anormalidades Múltiplas
/
Doenças do Tecido Conjuntivo
/
Oftalmopatias
Limite:
Humans
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Israel