Severe polyostotic fibrous dysplasia presenting as a leg length discrepancy

Abstract

A 16 year old female, recent refugee, presented to the clinic with the complaint of difficulty walking. The patient had been told she had osteoporosis as a child, though did not recollect a formal diagnosis. On physical exam, the patient had good range of motion of the hips, knees, ankles, and feet; however, restricted hip abduction on the left and limited hip internal rotation were noted. The patient walked with a heel-toe gait, a short leg gait on the left, a lateral trunk lean, and a left external foot progression angle. A leg length discrepancy was measured clinically at 4 centimeters, left shorter than right. Radiography of the lower extremities revealed a large expansile lytic lesion throughout the length of the left femur (Figure 1). Radiography of the upper extremities and hands revealed similar lesions (Figure 2 and Figure 3). Genetic analysis was pursued which revealed 5 variants in 5 genes of unknown significance.