Dominant syndrome with isolated cryptophthalmos and ocular anomalies.
Am J Med Genet
; 43(5): 785-8, 1992 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-1642262
ABSTRACT
We report on a mother and daughter with nonsyndromal cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated cryptophthalmos and from the Fraser or cryptophthalmos syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades do Olho
/
Genes Dominantes
Limite:
Adult
/
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article