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Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome
M G Harbord1, M Baraitser, J Wilson
1Hospitals for Sick Children, London.
Journal of Medical Genetics
|June 1, 1989
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.