Fibrochondrogenesis, an Antenatal and Postnatal Correlation

Fibrochondrogenesis is a rare, neonatally lethal osteochondrodysplasia, with autosomal recessive inheritance. It differs from other lethal dwarfisms in that it leads to broad, long-bone metaphyses (dumb-bell shaped) and pear-shaped vertebral bodies. We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal ultrasound and postnatal radiographic findings. Only few cases of fibrochondrogenesis are diagnosed before the termination of pregnancy.