Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia.
作者信息
Nevin N C, Mulholland H C, Thomas P S
机构信息
Regional Genetics Centre, Belfast City Hospital Trust, Northern Ireland.
出版信息
Am J Med Genet. 1996 Dec 2;66(1):33-8. doi: 10.1002/(SICI)1096-8628(19961202)66:1<33::AID-AJMG8>3.0.CO;2-X.
Abstract
We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males). As the syndrome has been described in males and females and also in two sibs, inheritance is probably autosomal recessive.
摘要
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