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

A cohort of nine Apert Syndrome patients (ages nine to twenty-seven) followed at a tertiary care facility was included in this prospective study. Patients were clinically assessed with physical examination and completion of two validated functional assessment tools, the Shoulder Pain and Disability Index (SPADI) and AAOS Paediatrics Questionnaire (PODCI). Radiographs were obtained of both shoulders and a standardised protocol MRI was performed on the dominant shoulder of all participants.

All patients had some degree of functional impairment attributable to their shoulder pathology. Physical examination consistently revealed reduced forward flex-ion and abduction. Radiographic findings were similar to previous reports, with pervasive osseous dysplasia of the shoulder joint. Medial humeral head hypoplasia was seen in eight out of nine patients and greater tuberosity overgrowth in seven out of nine patients. MR 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 eight out of nine patients. It also revealed a new finding of inferior glenoid inclination (seven out of nine patients), which 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 pathology, 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 MRI component demonstrated consistent inferior glenoid inclination, which may be a significant factor in their shoulder impairment. MR 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.