Campomelic dysplasia: A long surviving patient with sex reversal

Campomelic dysplasia is a rare disorder characterised by rhizomelic dwarfism, and numerous cartilage and osseous anomalies including bowed femora and tibiae with dimples on the pretibial regions, and associated extraskeletal findings. Except for a small number of cases, patients are lost within the first ten months, mainly due to respiratory distress. Here we present the first campomelic dysplasia case with sex reversal reported from Turkey, together with a review of the literature. The relatively long survival up to the age of 4 is another distinctive property of the case.