A clinicoradiologic study of the shoulder in Apert syndrome

To provide a comprehensive radiographic, clinical, and functional description of the shoulder in Apert syndrome.

A cohort of 9 Apert syndrome patients (ages, 9-27 years) followed at a tertiary care facility was included in this prospective study. Patients were clinically assessed with physical examination and completion of 2 validated functional assessment tools, the Shoulder Pain and Disability Index (SPADI) and American Academy of Orthopaedic Surgeons Pediatric Outcomes Data Collection Instrument (AAOS PODCI). Radiographs were obtained of both shoulders, and standardized-protocol magnetic resonance imaging was performed on the dominant shoulder of all participants.

All patients had some degree of functional impairment attributable to their shoulder pathologic abnormality. Physical examination consistently revealed reduced forward flexion and abduction. Radiographic findings were similar to previous reports, with pervasive osseous dysplasia of the shoulder joint. Medial humeral head hypoplasia was seen in 8 of 9 patients and greater tuberosity overgrowth in 7 of 9 patients. Magnetic resonance imaging of the shoulder, not previously performed in a cohort of Apert patients, allowed better delineation of abnormalities seen radiographically such as a central glenoid cleft seen in 8 of 9 patients. It also revealed a new finding of inferior glenoid inclination (7/9 patients) that has not been described in the literature. Very few soft tissue or degenerative abnormalities were demonstrated.

The findings of this study confirm that patients with Apert syndrome are functionally impaired by their shoulder pathologic abnormality, which may have a similar clinical impact as the more well-described hand and foot anomalies. The global functioning of patients with Apert syndrome is equivalent to patients with juvenile rheumatoid arthritis. The shoulder range of motion in Apert patients is decreased, most significantly in flexion and abduction. Radiographs confirmed previous imaging findings of glenohumeral dysplasia. The novel magnetic resonance imaging component demonstrated consistent inferior glenoid inclination, which may be a significant factor in their shoulder impairment. Magnetic resonance imaging revealed no significant soft tissue or degenerative abnormalities to account for their clinical disability. These findings have potential relevance in the surgical and clinical management of these patients.

Level IV.