FIBULAR HEMIMELIA: A RARE OCCURRENCE IN KARACHI, PAKISTAN.

Abstract

Fibular hemimelia is a non-lethal congenital lower limb skeletal malformation. It encompasses a broad range from partial to complete absence of fibula. Its incidence is very low worldwide. It affects boys more than girls in a ratio of 2:1. It may occur as an isolated anomaly or associated with other lower extremity anomalies like genu valgum, tibial bowing, ball and socket ankle joint and absent lateral foot ray anomaly. It may be associated with other syndromes including Fuhrmann syndrome, Al-Awadi/Raas-Rothschild syndrome, Roberts syndrome, and femur-fibula-ulna syndrome and FACTO syndrome. This case is not only unique as a rare occurrence in Karachi, Pakistan, but also in bilateral involvement, demonstrated complete absence of fibula i.e. type II fibular hemimelia; in association with a bilateral proximal focal femoral deficiency with pseudoarthrosis and club foot on each side.

KEYWORDS: 

Fibular hemimelia, skeletal survey, conventional imaging or x-ray, proximal focal femoral deficiency, pseudoarthrosis, club foot.