A rare case of lethal campomelic dysplasia

Ahmad El-Sheikhah, Fetal Medicine Unit, Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt
Mahy Mohsen, Fetal Medicine Unit, Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt
Sief El-Eslam A. Ali, Department of Obstetrics and Gynecology, Faculty of Medicine; Assiut University, Assiut, Egypt
Rasha Taher, Fetal Medicine Unit, Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt
Armia Michael, Department of Obstetrics and Gynecology, Faculty of Medicine; Assiut University, Assiut, Egypt
Shymaa S. Ali, Department of Obstetrics and Gynecology, Faculty of Medicine; Assiut University, Assiut, Egypt
Ahmed M. Abbas, Department of Obstetrics and Gynecology, Faculty of Medicine; Assiut University, Assiut, Egypt

Abstract

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.

 

URL

https://ir.uiowa.edu/pog_in_press/83