文章基本信息

标题：A rare case of lethal campomelic dysplasia
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作者：El-Sheikhah, Ahmed ; Mohsen, Mahy ; Ali, Sief El-Eslam A. 等
期刊名称：Proceedings in Obstetrics and Gynecology
印刷版ISSN：2154-4751
出版年度：2018
卷号：8
期号：1
页码：1-6
出版社：University of Iowa
摘要：Campomelic dysplasia is a rare and mostly lethal congenital malformation. It is known as an autosomal dominant disorder due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Here we report a case of a 26 years old primigravida married for 3 years with a history of consanguinity. She was impregnated by intracytoplasmic sperm injection (ICSI) due to male factor infertility. This mostly lethal skeletal anomaly was diagnosed by detailed ultrasonography in the late second trimester. She underwent an induction of labor termination due to intrauterine fetal demise.
关键词：Campomelic dysplasia; skeletal anomalies; congenital malformations