Case Report

A rare case of lethal campomelic dysplasia

Authors: Ahmed 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) , Ahmad A Radwan (Faculty of Medicine; Assiut University, Assiut, Egypt) , Ahmed M Abbas (Department of Obstetrics and Gynecology, Faculty of Medicine; Assiut University, Assiut, Egypt)

  • A rare case of lethal campomelic dysplasia

    Case Report

    A rare case of lethal campomelic dysplasia

    Authors: , , , , , , ,

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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.

Keywords: Campomelic dysplasia, skeletal anomalies, congenital malformations

How to Cite:

El-Sheikhah, A. & Mohsen, M. & Ali, S. A. & Taher, R. & Michael, A. & Ali, S. S. & Radwan, A. A. & Abbas, A. M., (2018) “A rare case of lethal campomelic dysplasia”, Proceedings in Obstetrics and Gynecology 8(1), 1–6. doi: https://doi.org/10.17077/2154-4751.1366

Rights: 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

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Published on
01 Feb 2018
Peer Reviewed
License
CC BY 4.0