[关于1例弗雷泽综合征。1例孕37周、伴有多种畸形的胎儿的尸检]
[About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations].
作者信息
Sánchez Godoy Laura, Hernández Barceló José Emilio
机构信息
Servicio de Anatomía Patológica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España.
Servicio de Anatomía Patológica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España.
出版信息
Rev Esp Patol. 2024 Jan-Mar;57(1):64-66. doi: 10.1016/j.patol.2023.07.002. Epub 2023 Oct 14.
Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways).
弗雷泽综合征或隐眼并指综合征是一种罕见的遗传性疾病，其诊断基于一系列主要和次要临床标准，基因检测可为诊断提供支持。本文介绍了一例妊娠37周时怀疑患有CHAOS综合征（先天性上呼吸道阻塞综合征）的胎儿尸检病例。
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