THE APERT SYNDROME HAND - PATHOLOGICAL ANATOMY AND CLINICAL MANIFESTATIONS

The Apert syndrome hand demonstrates many typical clinical features in cluding syndactyly, symbrachyphalangism, and growth disturbances. This is due to the grossly abnormal anatomy of both the skeletal and soft- tissue structures associated with a progressive disease process. This paper presents a clinical, radiologic, and histologic analysis of the Apert syndrome hand anatomy and correlates it with the clinical manife stations. It also links hand and craniofacial dysplasia to other regio ns of the skeleton as well as the overall disease process. From our an alysis, we conclude that there is a genetic anomaly causing variable a nd uncoordinated differentiation of the mesenchyme at the time of embr yologic separation into its various skeletal components, particularly in the distal limb bud and craniofacial skeleton. This disease process continues postnatally in endochondral bone growth center malformation and malfunction as well as ectopic cartilage ossification in soft tis sues. We discuss the role of abnormal musculotendinous anatomy and alt ered biomechanical forces in relation to these processes.