Manusov E G, Douville D R, Page L V, Trivedi D V
Scott Medical Center, Scott Air Force Base, Illinois.
Am Fam Physician. 1993 Jan;47(1):175-80.
Osteopetrosis is a hereditary disorder in which pathologic alteration of osteoclast resorption of bone results in thickening of cortical and lamellar bone. Before bone marrow transplantation, the infantile recessive form was uniformly fatal within the first two decades of life as a result of invasion of the marrow space by abnormal bone formation. The adult autosomal dominant form causes minimal morbidity and is usually diagnosed incidentally on routine radiographs. Although osteopetrosis is an extremely rare disorder, the study of this disease can provide insights into the formation of bone and the inheritance of disease.
骨质石化症是一种遗传性疾病，其中破骨细胞对骨的吸收发生病理改变，导致皮质骨和板层骨增厚。在进行骨髓移植之前，婴儿隐性型骨质石化症由于异常骨形成侵入骨髓腔，在生命的头二十年里通常是致命的。成人常染色体显性型骨质石化症的发病率极低，通常在常规X光片检查时偶然发现。尽管骨质石化症是一种极其罕见的疾病，但对这种疾病的研究可以为骨的形成和疾病的遗传提供见解。
