【摘要】 遗传性骨病（genetic skeletal disorders,GSD）是一类由遗传物质改变导致的遗传性疾病。遗传性骨病虽然相对罕见，但其致畸率、致残率高，会影响青少年的身心健康。近年来，随着分子生物学检测技术的发展，遗传性骨病中许多潜在的致病基因被发现。该文主要聚焦遗传性骨病的病因和分类，希望能为我国GSD的临床诊疗及科学研究提供帮助。更多还原

【Abstract】 Genetic skeletal disorders(GSD) are genetic diseases caused by the alteration of genetic materials.Genetic skeletal disorders are relatively rare,but often lead to high rate of deformity and disability,which affects physical and mental health of adolescents.In recent years,with the development molecular biolagical detection techniques,many underlying pathogenic genes of GSD have been discovered.This article focuses on the etiology and classification of genetic skeletal disorders,hoping to provide help for the clinical diagnosis,treatment and scientific research of GSD in China.更多还原