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图1 患者左腿胫骨骨折X射线摄片结果（箭头处为骨折处）

图2 成骨不全症患儿家系图谱

[1]	Sillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity[J]. Birth Defects Orig Artic Ser, 1979, 15 (5B) : 113–129.
[2]	Basel D, Steiner RD. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition[J]. Genet Med, 2009, 11(6):375–385.
[3]	曹来宾，徐爱德，徐德永.实用骨关节影像诊断学[M].济南：山东科学技术出版社，1998：175–176.
[4]	Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta [J]. J Med Genet, 1979, 16(2) : 101–116.

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