成骨不全症（osteogenesis imperfecta, OI）是一种罕见遗传性骨骼疾病，多由COL1A1和COL1A2（编码Ⅰ型胶原蛋白的基因）基因变异所致，以骨脆性增加、反复骨折及骨骼畸形为特征，严重影响患者生活质量。随着基因检测技术和分子病理学研究的进展，OI的诊断已从传统的影像学评估发展为基于基因型-表型关联的综合分析。早期诊断及规范管理对改善患者预后极为关键，但由于疾病罕见且技术更新快，全面掌握诊疗策略颇具挑战。该文将深入探讨OI遗传病理机制、诊疗的新进展及相关管理要点，旨在为OI的诊疗管理提供前沿参考，为临床医务工作者提供清晰、可行的诊疗思路。

Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder most commonly caused by variants in COL1A1 and COL1A2, which encode type I collagen. It is characterized by increased bone fragility, recurrent fractures, and skeletal deformities that adversely affect quality of life. With advances in genetic testing and molecular pathophysiology, diagnosis has evolved from traditional imaging-based assessment to comprehensive evaluation guided by genotype-phenotype correlations. Early diagnosis and standardized management are crucial for improving prognosis; however, the rarity of OI and rapid technological progress make it challenging to keep pace with evolving diagnostic and therapeutic strategies. This article discusses the genetic and pathophysiological mechanisms, recent advances in diagnosis and treatment, and key points in the management of OI, aiming to provide up-to-date reference information for OI care and clear, actionable guidance for clinicians.