Non-syndromic phocomelia: A rare case report signifying prenatal screening

Abstract

Phocomelia is a rare congenital condition characterized by severe limb malformation, where the limbs are either partly or completely underdeveloped. Phocomelia can occur as a syndrome or as a limb-specific abnormality. The frequency of phocomelia ranges from 0.6 to 4.2 per 100,000 live births; hence, there are not many reports of this deformity. Genetic inheritance and the use of thalidomide are the two main etiological factors of phocomelia. Several symptoms and visceral abnormalities are associated with this condition. Ultrasonography is crucial for the early detection of phocomelia during the intrauterine stage. Presented here is a case of phocomelia in a 6-year-old boy who was diagnosed after birth, with no maternal history of thalidomide usage or family history of the same condition. This case is unique in that it involves a child born with phocomelia but no additional congenital defects observed in related syndromes. Because of that, we suggest this case may be isolated.