Phocomelia: is it time to retrospect, regulate and rescue? a case report

Abstract

Phocomelia is an extremely rare congenital anomaly which presents as, the proximal part of the limb (humerus or femur, radius or tibia, ulna or fibula) being absent or markedly hypoplastic, with normal or near normal hand or foot. True phocomelia presents as the total absence of the intermediate segments of the limb, with the hand or foot directly attached to the trunk. Presented here is a case of phocomelia in an aborted foetus, with no maternal history of thalidomide exposure in her pregnancy and for whom evaluation of other family members/ siblings failed to reveal any substantial abnormality. The differential diagnosis and the significance of reporting of serious adverse drug reactions are discussed.