Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
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.
Harbord
M G
MG
Hospitals for Sick Children, London.
Baraitser
M
M
Wilson
J
J
D002386:Cataract / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome