The campomelic syndrome--prenatal ultrasound investigations. A case report

The campomelic syndrome is a skeletal dysplasia of unknown aetiology which is apparent at birth and is characterized by bilateral bowing of the tibiae, clubfoot and other multiple congenital abnormalities. Up to 50% of cases are either stillborn or die within 24 hours of birth in respiratory distress. With a few exceptions, the remainder die within 10 months. The patient in this report demonstrated characteristic features of the syndrome which were detected antenatally by ultrasound and confirmed after delivery. The apparently female infant died 2 hours postpartum in respiratory distress, but was subsequently found to have a 46,XY chromosome constitution. Autopsy and postmortem radiographs revealed multiple congenital abnormalities consistent with the campomelic syndrome. The findings in this case are discussed and the possibility of antenatal diagnosis is raised.