A variant of Reinhardt-Pfeiffer mesomelic skeletal dysplasia

Mesomelic bone dysplasias are characterised by disproportionate shortness of the middle segment of the extremities and short stature. Various patterns of this dysplasia have been described in the literature. The type involving mainly the ulna and fibula was described by Reinhardt and Pfeiffer as the ulno-fibular mesomelic dysplasia affecting the distal ulna and proximal fibula. Involvement of the distal fibula in mesomelic dysplasia has not been described to our knowledge. We report here a case of mesomelic dysplasia affecting mainly the distal fibula and distal ulna, with severe ankle deformity requiring surgical correction.