Femoral hypoplasia - Unusual facies syndrome

Abstract

Femoral hypoplasia - unusual facies syndrome is an extremely rare form of skeletal malformations with both femoral and facial abnormalities. Insulin-dependent diabetes mellitus has been reported as the main contributing factor to its development. Common sonographic findings include bilateral femoral hypoplasia and facial dysmorphism. Aside from complications due to physical limitations, most patients are able to live relatively normal lives. Several differential diagnoses can be made from sonographic findings; therefore, complete and thorough examinations must be performed by the sonographer.