石骨症（Ｏｓｔｅｏｐｅｔｒｏｓｉｓ）由ＡｌｂｅｒｓＳｃｈｏｎｂｅｒｙ于１９０４年首先报告［１］，故又称Ｓｃｈｏｎｂｅｒｙ病，是一种罕见的原因不明的先天性骨发育障碍性疾病，主要特点是骨密度高，骨髓腔窄甚至消失，全身骨骼硬且脆。作者遇到两个家庭５个患者，... Osteopetrosis was first reported by Albers Schonbery in 1904 [1], so it is also called Schonbery’s disease. It is a rare congenital bone development disorder with unknown causes. The main features are high bone density, narrow marrow cavity and even Disappear, body skeleton hard and brittle. The author met two families of five patients, ...