SKELETAL ABNORMALITIES IN THE APERT SYNDROME

This paper reports on skeletal abnormalities in 38 patients with Apert syndrome. Analysis includes alterations in the shoulders, humeri, elb ows, hips, knees, rib cage, and spine (except the cervical spine). Som e patients had subacromial dimples and elbow dimples during infancy. M obility at the glenohumeral joint was limited. Progressive limitation in abduction, forward flexion, and external rotation with growth was v irtually a constant finding. The acromioclavicular joint was prominent and sometimes had an angular, pointed appearance clinically. This was often associated with atrophic musculature and winging of the scapula e. Limited elbow mobility was common and usually mild in degree. Decre ased elbow extension was most often found with decreased flexion, pron ation, and supination occurring less frequently. Limited elbow mobilit y did not change significantly with growth in contrast to the increasi ng severity observed in the shoulder joint. Short humeri were a consta nt finding beyond infancy and genua valga of mild degree were present in many cases. Radiographic examination strongly suggests that the Ape rt syndrome is characterized by a multiple epiphyseal dysplasia. We fo und delay in appearance of postnatal ossification centers, particularl y in the humeral head, greater tuberosity, capitulum, and radial head. Subsequently, these bones became abnormal in shape. Glenoid dysplasia was observed consistently. The neck of the scapula was very short or absent and the inferior margin of the glenoid cavity was poorly demarc ated from the infraglenoid tubercle. The humeral head became oblong in shape with relative prominence of the greater tuberosity which compro mised abduction. In the elbow, the capitulum was often small and the r adial head was flat in many instances. Subluxation or dislocation of t he radial head or angulation of the radial neck was observed in some c ases. In the hip joint of some adults, the femoral necks were short an d broad with prominence of the greater trochanters. Less common radiog raphic findings are also discussed. (C) 1993 Wiley-Liss, Inc.