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, elbows, hips, knees, rib cage, and spine (except the cervical spine). Some patients had subacromial dimples and elbow dimples during infancy. Mobility at the glenohumeral joint was limited. Progressive limitation in abduction, forward flexion, and external rotation with growth was virtually a constant finding. The acromioclavicularjoint was prominent and sometimes had an angular, pointed appearance clinically. This was often associated with atrophic musculature and winging of the scapulae. Limited elbow mobility was common and usually mild in degree. Decreased elbow extension was most often found with decreased flexion, pronation, and supination occurring less frequently. Limited elbow mobility did not change significantly with growth in contrast to the increasing severity observed in the shoulder joint. Short humeri were a constant finding beyond infancy and genua valga of mild degree were present in many cases. Radiographic examination strongly suggests that the Apert syndrome is characterized by a multiple epiphyseal dysplasia. We found delay in appearance of postnatal ossification centers, particularly 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 demarcated from the infraglenoid tubercle. The humeral head became oblong in shape with relative prominence of the greater tuberosity which compromised abduction. In the elbow, the capitulum was often small and the radial head was flat in many instances. Subluxation or dislocation of the radial head or angulation of the radial neck was observed in some cases. In the hip joint of some adults, the femoral necks were short and broad with prominence of the greater trochanters. Less common radiographic findings are also discussed.