Femoral hypoplasia-unusual facies (femoral-facial) syndrome is a rare clinical entity that is commonly associated with maternal diabetes. Major features include atypical facial appearance (long filtrum, cleft palate, ear anomalies) with skeletal (mainly femoral hypoplasia and bowing), genitourinary and cardiovascular anomalies. Prenatal diagnosis needs a high index of suspicion and differential diagnosis from other skeletal dysplasias. In this case a preterm infant of a diabetic mother with femoral hypoplasia-unusual facies syndrome is discussed briefly.

Keywords: femoral-fasiyal sendrom, femoral hipoplazi, femoral-facial syndrome, femoral hypoplasia-bowing