Peng Zhiming, Zhang Haoran, Wang Shengru, Zhang Jianguo
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China.
Eur J Med Res. 2025 Jul 29;30(1):683. doi: 10.1186/s40001-025-02943-3.
Congenital scoliosis (CS), a severe form of early-onset scoliosis (EOS), arises from vertebral malformations during embryogenesis, driven by complex genetic and environmental interactions. This review synthesizes recent advances in understanding CS etiology, diagnosis, and treatment. Genetically, CS is linked to mutations in TBX6, GDF3, DSTYK, and COL11A2, alongside copy number variations (CNVs) and epigenetic modifications such as allele-specific methylation in SVIL and TNS3. Maternal hypoxia, toxin exposure, and nutritional deficiencies further contribute to pathogenesis. Diagnosis incorporates advanced imaging techniques-such as X-rays, magnetic resonance imaging (MRI), and computed tomography (CT)-as well as genetic testing, with whole-exome sequencing identifying mutations in 18.6% of cases. Conservative management, including casting and bracing (e.g., alternating cast and brace treatment [ARCBT] and 3D-printed orthoses), effectively delays progression in mild-to-moderate cases. Surgical interventions-such as hemivertebra resection, hybrid techniques (HT), and growth-modulating technologies including magnetic controlled growth rods (MCGR) and the Shilla method-have demonstrated improved outcomes in patients with severe deformities. HT combines posterior osteotomy with dual growing rods, achieving significant Cobb angle correction (81.4° to 40.1°) and spinal growth (1.23 cm/year) with fewer complications. MCGR reduces repeated surgeries but shows variable impacts on quality of life. Emerging approaches, including apical control techniques and robotics, highlight the shift toward personalized care. This review underscores the need for multidisciplinary strategies to optimize outcomes, emphasizing early diagnosis, tailored treatments, and long-term monitoring to address CS complexity.
先天性脊柱侧凸（CS）是早发性脊柱侧凸（EOS）的一种严重形式，由胚胎发育过程中的椎体畸形引起，受复杂的基因和环境相互作用驱动。本综述综合了在理解CS病因、诊断和治疗方面的最新进展。在基因方面，CS与TBX6、GDF3、DSTYK和COL11A2的突变有关，同时还与拷贝数变异（CNV）以及表观遗传修饰有关，如SVIL和TNS3中的等位基因特异性甲基化。母亲缺氧、接触毒素和营养缺乏进一步促进了发病机制。诊断包括先进的成像技术，如X射线、磁共振成像（MRI）和计算机断层扫描（CT），以及基因检测，全外显子测序在18.6%的病例中发现了突变。保守治疗，包括石膏固定和支具治疗（如交替石膏和支具治疗[ARCBT]以及3D打印矫形器），在轻度至中度病例中有效地延缓了病情进展。手术干预，如半椎体切除术、混合技术（HT）以及包括磁控生长棒（MCGR）和新罗法在内的生长调节技术，已在严重畸形患者中显示出更好的治疗效果。HT将后路截骨术与双生长棒相结合，实现了显著的Cobb角矫正（从81.4°至40.1°）和脊柱生长（每年1.23厘米），且并发症较少。MCGR减少了重复手术，但对生活质量的影响各不相同。包括顶点控制技术和机器人技术在内的新兴方法，凸显了向个性化医疗的转变。本综述强调了需要多学科策略来优化治疗效果，强调早期诊断、个性化治疗以及长期监测，以应对CS的复杂性。
