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石骨症又称大理石骨、脆性骨质硬化病(Osteopetrosis)、广泛性骨质硬脆病(Osteo sclerosis fragilis generalisata),广泛性先天性骨质硬化(Osteosclersis congenita diffusa)、硬化性骨增生性骨病及粉笔样骨等。该病系一种少见的泛发性骨质硬化症,Albers-Schonberg氏于1904年首先报导,1924年,Clairmont和Sching氏首次证明其遗传性。多年来,国内外陆续有散在病例报导,但国内报导例数不多,一个家族中多病例的报导尤为少见。现将我们自1960年以来,追溯检查的一个家族内两个母系三代共9例石骨症患者报告如下:
Osteopetrosis is also called marble bone, Osteopetrosis, Osteo sclerosis fragilis generalisata, Osteosclersis congenita diffusa, Sclerosing osteoproliferative bone. Diseases and chalk-like bones. The disease is a rare generalized osteomalacia, first reported by Albers-Schonberg in 1904, and for the first time in 1924, Clairmont and Sching proved heritability. Over the years, scattered cases have been reported at home and abroad, but the number of domestic reports has been limited. The reports of multiple cases in a family are particularly rare. We have now reported the 9 cases of osteopetrosis in two families and two families of females in a family that have been retroactively examined since 1960.