Murnaghan Lucas M, Thurgur Claire H, Forster Bruce B, Sawatzky Bonita J, Hawkins Robert, Tredwell Stephen J
Department of Orthopaedics, University of British Columbia, Canada.
J Pediatr Orthop. 2007 Oct-Nov;27(7):838-43. doi: 10.1097/BPO.0b013e3181455886a.
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.
全面描述Apert综合征患者肩部的影像学、临床及功能表现。
本前瞻性研究纳入了在三级医疗中心随访的9例Apert综合征患者（年龄9 - 27岁）。对患者进行临床体格检查，并完成2项经过验证的功能评估工具，即肩痛和功能障碍指数（SPADI）及美国矫形外科医师学会儿科结局数据收集工具（AAOS PODCI）。对双侧肩部进行X线摄影，并对所有参与者的优势肩进行标准化方案的磁共振成像检查。
所有患者均因肩部病理异常存在一定程度的功能障碍。体格检查始终显示前屈和外展活动度降低。X线表现与既往报道相似，肩关节普遍存在骨发育异常。9例患者中有8例可见肱骨头内侧发育不全，9例患者中有7例可见大结节过度生长。此前Apert综合征患者队列中未进行过肩部磁共振成像检查，此次检查能更好地显示X线所见的异常，如9例患者中有8例可见关节盂中央裂。还发现了文献中未描述的关节盂下倾斜这一新表现（7/9患者）。极少发现软组织或退行性异常。
本研究结果证实，Apert综合征患者因肩部病理异常而出现功能障碍，这可能与更为人熟知的手部和足部畸形具有相似的临床影响。Apert综合征患者的整体功能与幼年类风湿关节炎患者相当。Apert综合征患者的肩部活动范围减小，前屈和外展受限最为明显。X线摄影证实了既往关于盂肱关节发育异常的影像学表现。新型磁共振成像检查显示关节盂下倾斜一致，这可能是导致其肩部功能障碍的重要因素。磁共振成像未发现明显的软组织或退行性异常来解释其临床残疾情况。这些发现对这些患者的手术和临床管理具有潜在意义。
IV级。
