第二例患有严重智力障碍且拇趾和拇指无指甲的病例（坦普尔-巴拉伊泽综合征）。
A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
作者信息
Gabbett Michael T, Clark Ronald C, McGaughran Julie M
机构信息
Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia.
出版信息
Am J Med Genet A. 2008 Feb 15;146A(4):450-2. doi: 10.1002/ajmg.a.32129.
PMID:18203178
Abstract
We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.
摘要
我们报告一例男性患者，患有严重智力发育迟缓、癫痫症，且拇指和大脚趾指甲缺失/发育不全。此前仅曾有一次报告过这种临床症状组合。我们认为这代表一种独特的综合征。我们的病例还有拇指宽阔这一额外发现。
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