Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

AUTOR(ES)

Harbord, M G

RESUMO

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.

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