Antenatal sonographic diagnosis of isolated bilateral fibular hemimelia.

Abstract

Congenital absence of the fibula, also known as fibular hemimelia, encompasses a spectrum of anomalies involving abnormal growth and development of the fibula. 1,2 It is the most common long bone deficiency, followed by aplasia of the radius. According to Coventry and Johnson, 3 the condition was first described in 1698. Manifestations of this condition range from mild degrees of limb shortening to its most severe form, which includes complete absence of the fibula with accompanying defects in the femur, tibia, and foot. The severity of foot abnormalities appears to correlate with the severity of the fibular deficiency. Only a few reports of prenatally diagnosed fibular hemimelia have been published, 4.5 and to our knowledge there are no prior reports of isolated fibular hemimelia diagnosed antenatally on the basis of sonography. We report a case of the antenatal sonographic diagnosis of complete bilateral fibular hemimelia without the presence of other congenital anomalies.