石骨症(Osteopetrosis)是一种罕见的先天性骨发育障碍性疾病,病因不明,文献报告有家族遗传倾向。本文针对作者遇到的1个家族共3例并结合文献[1]2个家族5例共8例对石骨症进行影像学分析探讨。1资料与方法一个家族性石骨症病例介绍:本家庭共4人(父、母、儿、女儿),其中3例发病,母,儿及女儿。患者,男性,16岁,因外伤致左尺桡骨下段骨折,在 Osteopetrosis is a rare congenital bone developmental disorder with unknown etiology and family genetic predisposition reported in the literature. In this paper, the authors encountered a total of 3 cases of family and combined with the literature [1] 5 cases in 5 cases of 8 cases of osteopetrosis imaging analysis. 1 Materials and Methods A case of familial osteodystrophy: The family of 4 people (father, mother, children, daughters), of which 3 cases of onset, mother, children and daughters. Patient, male, 16 years old, suffered a fracture of the left ulna and radius under the trauma