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.
Highlights
Campomelic dysplasia (CD) is mostly lethal skeletal malformation syndrome characterized by abnormal curving of the long bones.[1]
One type of skeletal dysplasia, CD is a rare and mostly lethal condition observed with an incidence of 0.05-1.6 in 10,000 live births
CD seems not previously to have been reported in infants conceived by intracytoplasmic sperm injection (ICSI).[13]
Summary
Campomelic dysplasia (CD) is mostly lethal skeletal malformation syndrome characterized by abnormal curving of the long bones.[1]. Campomelic dysplasia (CD) is mostly lethal skeletal malformation syndrome characterized by abnormal curving of the long bones.[1] It is believed to be an autosomal dominant genetic trait and the mutation is located at 17 q 24.3 – q 25.1.2 Hydrocephalus, hydronephrosis, and congenital heart disease (ventriculoseptal defect, atrioseptal defect, aortic stenosis, and/or tetralogy of Fallot) are present.[3] Another feature of CD is male-to-female sex reversal, which occurs in about twothirds of patients with an XY karyotype.[3] Antenatal ultrasound scanning at about 18 to 20 weeks of gestation permits the Please cite this paper as: El-Sheikhah A, Mohsen M, Ali SEA, Taher R, Michael A, Ali SS, Radwan AA, Abbas AM.
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