Findings of fibular hemimelia syndrome with radiographically normal fibulae.

Abstract

We have noted a number of patients with features of fibular hemimelia with radiographically normal fibulae. This study was undertaken to further define this group. A review of hospital records and radiographs over a 72-year period identified 149 limbs in 123 patients with features of fibular hemimelia syndrome. Sixteen limbs in fourteen patients had findings of fibular hemimelia with radiographically normal fibulae. Thirteen of 16 had absent lateral rays with either ball and socket ankle joint, tarsal coalition or both. Six of the 13 had limb shortening. Three limbs in three patients did not have absent lateral rays, but had at least two other features of fibular hemimelia syndrome. All of these three limbs had ball and socket ankles and tarsal coalitions and two had shortening. These patients represent a mild subset of fibular hemimelia syndrome and we propose that they be classified as type 0 fibular hemimelia.