Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, No. 3333, Binsheng Road, Hangzhou, 310052, China.
Department of Emergency Trauma, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, 310052, China.
BMC Pediatr. 2024 Feb 14;24(1):118. doi: 10.1186/s12887-024-04603-7.
Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aimed to analyze the clinical characteristics of orthopedic deformities in patients with PWS.
A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI) were measured. This study aimed to evaluate the relationship between demographic parameters and bone deformities.
Scoliosis was found in 66 patients (43.7%), including 52 (78.8%) with mild scoliosis, 10 (15.2%) with moderate scoliosis, and 4 (6.1%) with severe scoliosis. Only seven patients received orthopedic treatment (10.6%). The median age of scoliosis was 4.5 years old, and the prevalence of scoliosis increased rapidly at the age of 5 years and adolescence. The mean CA in this study increased gradually with age. HD was found in 47 patients (38.2%), and 6 patients received orthopedic treatment (12.7%). The median age at HD was 1.8 years old. The mean AI of the study population decreased with age. The prevalence of HD treated with recombinant human growth hormone (rhGH) was low. No significant differences were observed in sex, genotype, body mass index (BMI), obesity rate, or onset of scoliosis and HD.
The prevalence of scoliosis and HD was higher in patients with PWS. The onset age and developmental trends of the different skeletal malformations were different. Early diagnosis and treatment are important for the prognosis and treatment of orthopedic diseases in patients with PWS.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，常伴有骨骼问题，主要为脊柱侧凸和髋关节发育不良（HD）。本研究旨在分析 PWS 患者的骨科畸形的临床特征。
对截至 2023 年 3 月的 175 例患者进行回顾性研究。测量脊柱的 Cobb 角（CA）、髋关节的 alpha 角和髋臼指数（AI）。本研究旨在评估人口统计学参数与骨骼畸形之间的关系。
发现 66 例患者（43.7%）存在脊柱侧凸，其中 52 例（78.8%）为轻度脊柱侧凸，10 例（15.2%）为中度脊柱侧凸，4 例（6.1%）为重度脊柱侧凸。仅 7 例患者接受了矫形治疗（10.6%）。脊柱侧凸的中位年龄为 4.5 岁，5 岁和青春期时脊柱侧凸的患病率迅速增加。本研究中 CA 平均值随年龄逐渐增加。发现 47 例患者（38.2%）存在髋关节发育不良，6 例患者接受了矫形治疗（12.7%）。髋关节发育不良的中位年龄为 1.8 岁。研究人群的 AI 平均值随年龄降低。接受重组人生长激素（rhGH）治疗的髋关节发育不良的患病率较低。性别、基因型、体重指数（BMI）、肥胖率、脊柱侧凸和髋关节发育不良的发病年龄无显著差异。
PWS 患者脊柱侧凸和髋关节发育不良的患病率较高。不同骨骼畸形的发病年龄和发展趋势不同。早期诊断和治疗对于 PWS 患者的骨科疾病的预后和治疗至关重要。
