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.