摘要目的:观察脊髓性肌萎缩症(spinal muscular atrophy，SMA)患儿髋关节和脊柱畸形发生的临床特点，为SMA的骨科管理提供依据。方法:收集2019年1月至2019年12月就诊于浙江大学医学院附属儿童医院SMA多学科门诊的SMA Ⅱ型和SMA Ⅲ型患儿共32例，其中SMA Ⅱ型25例，SMA Ⅲ型7例；男18例，女14例；年龄范围为2岁9个月至19岁3个月，平均年龄为8.7岁。采用回顾性横断面研究，分析患儿的临床随访资料，影像学检查评估相应畸形，髋关节畸形采用Hipscreen软件测量股骨头外移指数，脊柱畸形和骨盆倾斜根据脊柱拼接X线正侧位片测量Cobbs角和骨盆倾斜角，初步分析髋关节和脊柱畸形的临床特点。结果:SMA Ⅱ型患儿髋关节脱位或半脱位发生率为68%(17/25)，脊柱侧弯发生率为60%(15/25)，其中"C"形弯曲有12例；1例SMA Ⅲ型患儿发生髋关节半脱位，2例发生脊柱侧弯。一元线性回归分析模型显示SMA Ⅱ型患儿Cobbs角和年龄呈线性正比关系( R＝0.9， P＝0)，平均每年进展8.4°。SMA Ⅱ型患儿中21例患儿出现骨盆倾斜，Pearson相关分析显示SMA Ⅱ型患儿Cobbs角和骨盆倾斜角相关( R＝0.8， P＝0)。 结论:作为一种罕见的神经肌肉疾病，SMA患儿极易合并髋关节异常和脊柱侧弯，SMA Ⅱ型患儿脊柱侧弯发生早、进展快，多数呈"C"形弯曲伴骨盆倾斜，充分掌握其临床特点，有助于个体化骨科管理方案的实施。

abstractsObjective:To observe the clinical characteristics of hip joint and spinal deformity in children with spinal muscular atrophy (SMA) to provide rationales for managing orthopaedics.Methods:From January 2019 to December 2019, 25 children with SMA type Ⅱ and another 7 with SMA type Ⅲ were analyzed by using a retrospective cross-sectional survey. There were 18 boys and 14 girls with an age of 8.7(2.9-19.3) years. The corresponding deformity was evaluated by imaging examinations. Migration percentage was measured by Hipscreen for assessing abnormal hip joints. Scoliosis and pelvic obliquity were assessed by radiography of total spine and Cobbs angel and pelvic inclination angle measured. The clinical characteristics of hip and spinal deformity were preliminarily analyzed.Results:The incidence of hip dislocation or subluxation for SMA type Ⅱ was 68%(17/25). The incidence of scoliosis was 60% (15/25), including C-shaped scoliosis (n=12) . There were hip subluxation (n=1) and scoliosis with SMA type Ⅲ (n=2). Univariate linear regression analysis showed that Cobbs angle was linearly proportional to age of children with SMA type Ⅱ ( R=0.9, P=0) and scoliosis progressed 8.4° per year. Pelvic tilt was observed in 21 children with SMA type Ⅱ. Pearson correlation analysis indicated that Cobbs angle was correlated with pelvic tilt angle in children with SMA Ⅱ ( R=0.8, P=0). Conclusions:As a rare neuromuscular disease, children with SMA may have concurrent scoliosis and abnormal hip joint. Children with SMA type Ⅱ have an early onset and a rapid progression of scoliosis. Most of them have a C-shaped curve with pelvic tilt. Individualized orthopedic management is dictated by fully grasping its clinical characteristics.