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.
Campomelic dysplasia, skeletal anomalies, congenital malformations
The authors report no conflict of interest
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El-Sheikhah A, Mohsen M, Ali SA, Taher R, Michael A, Ali SS, Radwan AA, Abbas AM. A rare case of lethal campomelic dysplasia. Proc Obstet Gynecol. 2018 Feb 28;8(1):Article 4 [6 p.]. https://doi.org/10.17077/2154-4751.1366. Free full text article.