Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
J Med Genet
; 26(6): 397-400, 1989 Jun.
Article
em En
| MEDLINE
| ID: mdl-2738902
ABSTRACT
The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac failure.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Hipogonadismo
/
Deficiência Intelectual
/
Microcefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1989
Tipo de documento:
Article