Femoral hypoplasia- unusual facies syndrome: A case report and literature review

The femoral hypoplasia- unusual facies syndrome (FH/ UFS); also known as femoral facial syndrome (FFS), is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies.The two principal characteristics of this syndrome, micrognathia and shortened femur, can be demonstrated by sonographic (US) imaging in the early stages of pregnancy. This disorder was first discovered by Daentt et al in 1975 and is more common in females. The femoral hypoplasia- unusual facies syndrome is a rarely considered clinical entity that has a strong association with maternal diabetes.This report describes a case of FH/ UFSfollowed in our Physical and Rehabilitation Medicine (PRM) departmentfor proximal bilateral femoral agenesis.Hehad facial dysmorphia, bilateral testicular agenesis with a rare finding like bilateral second toe supraductus.