同胞中的小头畸形、智力迟钝、白内障和性腺功能减退：马茨索夫综合征。
Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.
作者信息
Harbord M G, Baraitser M, Wilson J
机构信息
Hospitals for Sick Children, London.
出版信息
J Med Genet. 1989 Jun;26(6):397-400. 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.
摘要
近亲结婚父母的子女（兄弟姐妹）中出现了小头畸形、智力迟钝、白内障和性腺功能减退的关联情况。这些特征与马尔索夫综合征的诊断相符。此外，其中一个子女患有心肌病，另一个则患有心力衰竭。
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