FEMORAL-FACIAL SYNDROME - A RARE CASE REPORT

Abstract
Femoral-facial syndrome (FFS) is an extremely rare fetal malformation. It comprises bilateral femoral hypoplasia and craniofacial dysmorphism. Maternal diabetes is associated with approximately 40% of cases of FFS. We present the case of Femoral-Facial syndrome of Newborn female child. She was delivered by vaginal route at 36th week of gestation. Mother had a history of type 2 diabetes mellitus. She was having markedly shortened bilateral lower limbs, deformed hip joint and mild talipes equino-varus deformity of left foot. There was prominent forehead, short nose with broad tip, long philthrum, thin upper lip, micrognathism and malformed low set external ears. Skeletal radiograph shows complete absence of right femur and marked hypoplasia of left femur.