Gonadal Dysgenesis in Association With Campomelic Dysplasia

Abstract

Campomelic dysplasia is a rare skeletal malformation that is characterized by congenital shortening and bowing of the long bones of the lower extremities and that can be detected prenatally by ultrasound examination. The phenomenon of sex reversal is associated with this skeletal dysplasia, resulting in phenotypic female patients whose chromosome constitution is 46, XY. At 24 weeks' gestation, a case of gonadal dysgenesis is identified in a fetus afftected by campomelic dysplasia. The pathognomonic features of campomelic dysplasia are shown by prenatal ultrasound examination and correlation is made with postantal clinical and radiographic findings. Several skeletal dysplasias, in cluding campomelic dysplasia, can be diagnosed prenatally by evaluating the fetal long bones. Among the fetuses affected with compomelic dysplasia, a certain precentae are 46, XY female patients. Genetic amniocentesis and sex determination by ultrasound examination should be considered to identify prenatally these fetuses. Postanatlly, it is reasonable that all phenotypic female neonates diagnosed with campomelic dysplasia should undergo chromosome analysis.