Advances in the diagnosis and treatment of congenital scoliosis

摘要

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.