Abstract: Osteopetrosis is a rare hereditary disease whose clinical manifestations are diverse and complex.Specific imaging findings are the main evidence for diagnosis.The disease is caused by a decrease in the number of osteoclasts and by functional defects in osteoclasts， and it is regulated by multiple genes.Appropriate symptomatic treatments should be given according to clinical symptoms and signs.In this article， we report a case of adult osteopetrosis， review the related literature， and discuss the clinical classifications， characteristic X-ray findings， pathogenesis， diagnosis and differential diagnosis， treatment， and prognosis of the disease.

Key words: Osteopetrosis；Osteoclasts；X-ray, diagnostic；Signs and symptoms；Case reports

摘要： 石骨症是罕见的遗传性疾病，临床表现多样、复杂，特异的影像学表现是其诊断要点。当前已知其病因为破骨细胞数量减少及其功能缺陷，并受多基因调控，应根据其临床症状和体征给予适当的对症治疗。本文报道1例成人型石骨症患者，并结合文献，介绍该病的临床分型、特征性X线表现、发病机制、诊断与鉴别诊断、治疗及预后。
骨硬化症；破骨细胞；X线，诊断；体征和症状；病例报告
10.12114/j.issn.1007-9572.2018.00.106