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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Department of Obstetrics and Gynecology, The University of Iowa Hospitals and Clinics
El-Sheikhah A, Mohsen M, Ali SEA, Taher R, Michael A, Ali SS, Radwan AA, Abbas AM. A rare case of lethal campomelic dysplasia. POG in Press. 2017 December; Article 1 [ 6 p.]. Available from: http://ir.uiowa.edu/pog_in_press/. Free full text article.