Fetal fibular hemimelia with focal femoral deficiency: A case report

Fibular hemimelia (FH) is a congenital deficiency in which a part or all of the fibular bone is hypoplastic or aplastic and associated with hypoplastic tibia and foot anomalies. The main differential diagnoses include proximal focal femoral dysplasia, Femur-Fibula-Ulna syndrome, and Femoral Hypoplasia-Unusual Facies syndrome. Proximal focal femoral dysplasia, which has a short, angulated femur with normal mineralization may be associated with FH. We report a case of unilateral FH with focal femoral deficiency detected at 18 weeks of gestation during a routine ultrasonographic anatomic screening. Sonographic findings were a unilateral short femur (1.8 cm, 3 weeks shorter than expected for gestational weeks), agenesis of ipsilateral fibula and angulation of ipsilateral tibial shaft. During a routine ultrasonographic anatomic scan, all the long bones are carefully measured and evaluated. Long bone shortness can be a part of syndrome or an isolated finding.