先天性甲状腺功能减退症、毛发粗糙及腭裂。
Congenital hypothyroidism, spiky hair, and cleft palate.
作者信息
Bamforth J S, Hughes I A, Lazarus J H, Weaver C M, Harper P S
机构信息
Institute of Medical Genetics, University of Wales, College of Medicine, Heath Park, Cardiff.
出版信息
J Med Genet. 1989 Jan;26(1):49-51. doi: 10.1136/jmg.26.1.49.
Abstract
Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.
摘要
描述了两兄弟患有先天性甲状腺功能减退症、头发呈穗状、后鼻孔闭锁、腭裂和会厌裂。每次怀孕的孕晚期均出现羊水过多。这些异常似乎代表一种新的综合征。
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