骨骼石化症[Osteopetrosis]或称大理石骨病,以终生骨密度增加,髓腔几近消失为特点。由于骨髓造血机能的障碍,儿童均具有代偿性髓外造血,表现为进行性贫血、淋巴结与肝脾肿大,甚至末梢血出现幼稚细胞,常误诊为肝硬化、白血病、再生障碍性贫血等。我科于短期内见到二例,报告如下: Osteopetrosis [Osteopetrosis], or marble bone disease, is characterized by an increase in lifetime BMD and a near disappearance of the medullary canal. Due to the disorder of bone marrow hematopoietic function, children have compensatory extramedullary hematopoiesis, manifested as progressive anemia, lymph nodes and hepatosplenomegaly, and even the emergence of naive cells of peripheral blood, often misdiagnosed as cirrhosis, leukemia, aplastic anemia . Our department met two cases in the short term and reported as follows: