Prenatal diagnosis of type 1 fibular hemimelia

Abstract

Fibular hemimelia (FH) is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula. Typically, it has been diagnosed at birth, when the neonate is seen to have lower limb shortening and a foot with missing toes. Although it is the most frequent lower limb deficiency anomaly, there are few published reports of prenatally diagnosed cases. Most of these published cases have involved the complete absence of the fibula, which is relatively easy to diagnose with antenatal ultrasound. In our opinion, our case is the first case of unilateral partial absence of the fibula detected using prenatal ultrasound imaging. Herein, we report a FH case associated with foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 24 weeks’ gestation. The anomaly was confirmed after birth by X-ray, and conservative orthopedic management was chosen. Our case shows that partial limb defects can also be detected by prenatal ultrasound imaging.