一个僧伽罗人家庭中的劳伦斯-穆恩-比德尔综合征。
The Laurence-Moon-Biedl syndrome in a Singhalese family.
作者信息
Chanmugam D, Fernando R L, Karunaharan T
出版信息
Aust N Z J Med. 1977 Jun;7(3):304-6. doi: 10.1111/j.1445-5994.1977.tb03693.x.
Abstract
The first published occurrence of the Laurence-Moon-Biedl Syndrome in a Singhalese family is reported. Three members of a family of six with first cousin non-affected parents are described along with studies to indicate that the hypogonadism in this family can be ascribed to hypogonadotrophism. The high incidence of congenital heart disease and genito-urinary abnormalities noted by other is confirmed.
摘要
据报道，在一个僧伽罗族家庭中首次出现了劳伦斯-穆恩-比德尔综合征。本文描述了一个六口之家的三名成员，其父母为近亲且未患病，并通过研究表明该家族中的性腺功能减退可归因于促性腺激素分泌不足。其他研究指出的先天性心脏病和泌尿生殖系统异常的高发病率得到了证实。
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