并指
医学
尸检
气道阻塞
气道
解剖
病理
外科
作者
T Mesens,Ingrid Witters,J Van Robaeys,Hilde Peeters,Jean‐Pierre Fryns
出处
期刊:PubMed
日期:2013-01-01
卷期号:24 (4): 367-71
被引量:13
摘要
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syndrome (cryptophthalmos-syndactyly syndrome; OMIM 219000). The diagnosis was confirmed by mutation analysis of FRAS1.
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