Phocomelia: case report of a rare congenital disorder

Phocomelia is an extremely rare malformation in which babies are born with limbs that appear similar to the flippers of a seal. Although various factors can cause phocomelia, the prominent roots came from the use of thalidomide and from genetic inheritance. Phocomelia is transmitted as an autosomal recessive trait with variable expressivity, and malformation is linked to chromosome 8. Presented here is the incidental detection of phocomelia in a young man with no history of thalidomide intake and for whom evaluation of other family members/siblings failed to reveal any substantial abnormality, making it a probable case of sporadic mutation-induced phocomelia.