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Research Article
Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
  1. M G Harbord,
  2. M Baraitser,
  3. J Wilson
  1. Hospitals for Sick Children, London.

    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.

    https://doi.org/10.1136/jmg.26.6.397

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