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Case Reports
. 1989 Jun;26(6):397-400.
doi: 10.1136/jmg.26.6.397.

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

M G Harbord  1 , M Baraitser, J Wilson
Affiliations
Case Reports

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

M G Harbord et al. J Med Genet. 1989 Jun.

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.

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References

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