DOI: 10.36347/sajb.2017.v05i09.004

Pages: 626-630

Campomelic dysplasia (CD; OMIM #114290) is an osteochondrodysplasia associated with skeletal malformations and sex reversal. It occurs due to de novo mutations in SOX9 gene in the 17q24 chromosome. It is associated with bent lower limbs, micrognathia, cleft palate, hypoplastic scapulae, congenital hip dislocation and a high rate of neonatal mortality. We evaluated 2 neonates diagnosed as CD on the basis of these findings. One of them was born to a diabetic mother, none of them showed sex reversal and only one survived the first year of life. Genetic counseling was given to the families of the patients.