A case of phocomelia associated with diaphragmatic hernia

Objective Phocomelia is a rare congenital anomaly seen in 4 million births. Many factors play a role in the etiology of phocomelia such as environmental-genetic factors, teratogen exposure and amniotic band syndrome. Thalidomide, alcohol, cyclophosphamide and retinoic acid have also been implicated in the pathogenesis. Phocomelia may be isolated or accompanied by syndromes. We present a case of isolated sporadic phocomelia with diaphragmatic hernia that was diagnosed and defined in our clinic.