Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula

Abstract

Congenital lateral ray deficiency is considered to be a manifestation of fibular hemimelia. However, we have noted patients with absent lateral ray but stable knee and ankle joints, and named this condition terminal hemimelia of the lower extremity. This study was undertaken to further define this group of patients and to compare these patients with fibular hemimelia patients. Four boys and one girl of mean age six years two months were in the terminal hemimelic group and four boys and three girls of mean age eight years seven months in the fibular hemimelic group at the final evaluation. Clinical features commonly observed in the fibular hemimelia such as knee valgus, knee instability, tibial bowing, ball and socket ankle, ankle instability, tarsal coalition, leg length inequality were compared between both groups. Terminal hemimelia of the lower extremity was the same as fibular hemimelia in clinical features below the ankle joint. However, terminal hemimela was found to be milder than fibular hemimelia in terms of limb shortening. The clinical features above the ankle joint were different between both groups. Knees and ankles were stable, and gait disturbance were rarely noticed in patients with terminal hemimelia of the lower extremity.