兄妹同患成骨不全并双侧苍白球钙化

成胜权,曹玉红,付蓉,张劲松

中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (3) : 231-232.

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中国当代儿科杂志 ›› 2012, Vol. 14 ›› Issue (3) : 231-232.
病例报告

兄妹同患成骨不全并双侧苍白球钙化

  • 成胜权,曹玉红,付蓉,张劲松
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Osteogenesis imperfecta complicated by bilateral pallidal calcification in two sibships

  • CHENG Sheng-Quan, CAO Yu-Hong, FU Rong, ZHANG Jing-Song
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成胜权,曹玉红,付蓉,张劲松. 兄妹同患成骨不全并双侧苍白球钙化[J]. 中国当代儿科杂志. 2012, 14(3): 231-232
CHENG Sheng-Quan, CAO Yu-Hong, FU Rong, ZHANG Jing-Song. Osteogenesis imperfecta complicated by bilateral pallidal calcification in two sibships[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(3): 231-232
中图分类号: R596.1   

参考文献

[1]Graul AI. Filling the gaps: osteogenesis imperfecta[J]. Drug News Perspect, 2005, 18(6): 400-401.

[2]Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease[J]. J Bone Miner Res, 2000, 15(9): 1650-1658.

[3]Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type Ⅵ: a form of brittle bone disease with a mineralization defect[J]. J Bone Miner Res, 2002, 17(1):30-38.

[4]Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, et al. Osteogenesis imperfectatype Ⅶ: an autosomal recessive form of brittle bone disease[J]. Bone, 2002, 31(1): 12-18.

[5]Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH. Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance[J]. Genet Med, 2011, 13(2): 125-130.

[6]杨志仙,秦炯,常杏芝,王爽,包新华,张月华,等.儿童基底节病变17例临床分析[J].临床儿科杂志,2006,24(8):629-631.

[7]陈素芬,杨期明,雷源标,曹莉梅,赵巧珍,陈鹏,等.特发性基底节钙化的临床分析[J].脑与神经疾病杂志,2010,18(1):59-61.

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