Femoral-Facial Syndrome

Gouri Nagraj, Hitanshu Bhatt, Pratichi Parikh Mavani, Mitali Thakor

Abstract

Femoral-facial syndrome (FFS) or femoral hypoplasia–unusual facies syndrome is a complex syndrome comprising multiple, rare congenital anomalies including a variable grade of unilateral or bilateral femoral hypoplasia, facial dysmorphism, and other minor malformations. Its close association with caudal regression syndrome warrants investigations for ruling out maternal hyperglycemia. Prenatal detection of FFS via ultrasonography is possible. We report such a case diagnosed during the midtrimester anomaly scan along with its postnatal correlation and review of literature.