Prader-Willi综合征合并脊柱侧凸的病因、特点及治疗

Scoliosis in Prader-Willi syndrome:etiology,characteristics and treatment

Prader-Willi综合征(PWS)是一类由于父源染色体15q11.2-q13区域印记基因缺陷所致的多系统受累的罕见遗传病,主要临床表现为肌张力低下、智力障碍、性腺发育滞后以及肥胖等。PWS患者常合并各种骨骼畸形或异常,脊柱侧凸是PWS患者最常见的骨骼畸形。PWS合并脊柱侧凸和其他类型脊柱侧凸在病因、特点以及治疗等方面不尽相同,既往国内对该疾病合并脊柱侧凸的关注较少。本文就PWS合并脊柱侧凸的致病机制、畸形特点以及治疗方法进行综述。

Prader-Willi syndrome(PWS)is a genetic disorder with multisystem involvement,recognized as an example of genomic imprinting,generally due to a de novo paternal 15q11.2-q13 deletion.The main clinical manifestations include hypotonia,intellectual impairment,hypogonadism and obesity.There are a number of associated orthopedic manifestations,the most recognized of which is scoliosis.However,the scoliosis is quite different with those of other kinds in the aspect of etiology,characteristics and treatment.No enough attention is paid to it domestically.In this article the etiology,characteristics and treatment of scoliosis in patients with PWS were reviewed.