Acromesomelic dysplasia

Differential Diagnosis

Acrodysostosis features a thick calvarium, prognathism, epiphyseal and vertebral stippling, and a less severe compromise of the mesomelic segment of the limbs. In chondroectodermal dysplasia the femur and humerus are shortened, there is polydactyly and congenital heart disease. Congenital amputations are often unilateral, distinctly asymmetric and the distal metaphyses or epiphyses may be absent or hypoplastic. In Grebe chondrodysplasia the lower extremities are more severely affected than the upper extremities, with severity of shortening progressively increasing from proximal to distal segments. The femur and humerus demonstrate different degrees of compromise. There is a heterogeneous group of disorders with mesomelic long bone shortening (mesomelic dysplasias) including the Langer, Nievergelt, Werner, Rheinhardt-Pfeiffer and Robinow types in which the hands and feet are minimally or not affected at all. Radial and ulnar ray defects include a wide variety of disorders with primary involvement of the upper extremities, frequently asymmetric, and with either normal hand development or different degrees of compromise. These hand anomalies, however, usually correlate with the axis involved and may be distinctly irregular, as opposed to the symmetric acromelia typical of the acromesomelic dysplasia.