Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
Open Access
- 1 June 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (6), 397-400
- https://doi.org/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.Keywords
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