Roberts Timothy T, Cepela Daniel J, Uhl Richard L, Lozman Jeffery
From the Division of Orthopaedic Surgery, the Department of Surgery, Albany Medical Center, Albany, NY.
J Am Acad Orthop Surg. 2016 May;24(5):298-308. doi: 10.5435/JAAOS-D-15-00275.
Osteogenesis imperfecta is a heritable group of collagen-related disorders that affects up to 50,000 people in the United States. Although the disease is most symptomatic in childhood, adults with osteogenesis imperfecta also are affected by the sequelae of the disease. Orthopaedic manifestations include posttraumatic and accelerated degenerative joint disease, kyphoscoliosis, and spondylolisthesis. Other manifestations of abnormal collagen include brittle dentition, hearing loss, cardiac valve abnormalities, and basilar invagination. In general, nonsurgical treatment is preferred for management of acute fractures. High rates of malunion, nonunion, and subsequent deformity have been reported with both closed and open treatment. When surgery is necessary, surgeons should opt for load-sharing intramedullary devices that span the entire length of the bone; locking plates and excessively rigid fixation generally should be avoided. Arthroplasty may be considered for active patients, but the procedure frequently is associated with complications in this patient population. Underlying deformities, such as malunion, bowing, rotational malalignment, coxa vara, and acetabular protrusio, pose specific surgical challenges and underscore the importance of preoperative planning.
成骨不全是一组与胶原蛋白相关的遗传性疾病，在美国影响着多达5万人。虽然该病在儿童期症状最为明显，但成骨不全的成人也会受到该病后遗症的影响。骨科表现包括创伤后和加速性退行性关节病、脊柱侧弯和椎体滑脱。胶原蛋白异常的其他表现包括牙质脆弱、听力丧失、心脏瓣膜异常和颅底陷入。一般来说，急性骨折的治疗首选非手术治疗。据报道，闭合和开放治疗均有较高的骨不连、骨不愈合和随后畸形发生率。当需要手术时，外科医生应选择跨越整个骨骼长度的分担负荷髓内装置；通常应避免使用锁定钢板和过度刚性固定。对于活动患者可考虑关节成形术，但该手术在这类患者中经常伴有并发症。潜在的畸形，如骨不连、弓形、旋转畸形、髋内翻和髋臼前突，带来了特定的手术挑战，并突出了术前规划的重要性。
