先天性高气道梗阻综合征（CHAOS）作为弗雷泽综合征的一部分：超声和尸检结果。
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.
作者信息
Mesens T, Witters I, Van Robaeys J, Peeters H, Fryns J P
机构信息
Department of Obstetrics and Gynecology, St-Jans Hospital, Genk, Belgium.
Department of Pathology, St-Jans Hospital, Genk, Belgium.
出版信息
Genet Couns. 2013;24(4):367-71.
PMID:24551978
Abstract
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.
摘要
先天性高气道梗阻综合征（CHAOS）是一种潜在的致命疾病。我们描述了一例CHAOS病例报告，在孕20周时诊断出合并其他畸形。尸检结果提示为弗雷泽综合征（隐眼并指综合征；OMIM 219000）。通过对FRAS1进行突变分析确诊。
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