石骨症是一种罕见的先天性遗传疾病,其发病特征为破骨细胞受损导致的全身骨密度增加。常染色体隐性遗传恶性石骨症又称为恶性婴儿型石骨症,其发病率约为1/300000。本文报告1例恶性婴儿型石骨症伴下颌骨骨髓炎病例,并结合文献对石骨症的发病机制、临床表现、影像学表现及治疗等进行综述。 Orthopedic disease is a rare congenital genetic disease characterized by an increase in total body density due to osteoclast damage. Autosomal recessive malignant osteopetrosis, also known as malignant infantile osteopetrosis, has a prevalence of approximately 1 in 300,000. This article reports 1 case of malignant infantile osteolithiasis with mandibular osteomyelitis and reviews the literature on the pathogenesis, clinical manifestations, imaging findings and treatment of osteopetrosis.