Peer Reviewed





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

Total Pages

6 pages

Financial Disclosure

The authors report no conflict of interest


Copyright © 2018 Ahmed El-Sheikhah, Mahy Mohsen, Sief El-Eslam A. Ali, Rasha Taher, Armia Michael, Shymaa S. Ali, Ahmad A. Radwan, and Ahmed M. Abbas

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.