2. Academic Validation
  3. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

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

  • J Med Genet. 1989 Jun;26(6):397-400. doi: 10.1136/jmg.26.6.397.
M G Harbord 1,  M Baraitser,  J Wilson
Affiliations

Affiliation

  • 1 Hospitals for Sick Children, London.
PMID: 2738902 DOI: 10.1136/jmg.26.6.397
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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