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Ehlers-Danlos综合征 被引量:5

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摘要 Ehlers-Danlos综合征(Ehlers-Danlos Syndrome,EDS)又称弹力过度性皮肤伴皮肤和关节松弛的皮肤毛细管破裂,为真性结缔组织病,属于遗传性结构蛋白病.EDS为罕见的结缔组织遗传疾病,当其累及骨关节系统将会有关节疼痛、肿胀及不稳、脊柱畸形等表现.最早由Tschernogobow于1892年报道,作者所描述的典型症状为皮肤弹性增高,关节过度活动以及骨关节假瘤样突起.
出处 《脊柱外科杂志》 2013年第6期378-381,共4页 Journal of Spinal Surgery
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参考文献15

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同被引文献34

  • 1刘洋,李明.Klippel-Feil综合征研究进展[J].脊柱外科杂志,2005,3(1):43-46. 被引量:6
  • 2刘洋,李明,朱晓东,陈华江,王新伟,袁文.Ehlers-Danlos综合征合并脊柱侧凸外科治疗附2例报告及文献复习[J].脊柱外科杂志,2007,5(1):44-46. 被引量:2
  • 3曾涛,刘新光,周中军.早老症(HGPS)的发病机制与治疗策略[J].生物化学与生物物理进展,2007,34(7):687-694. 被引量:7
  • 4PARAPIA L A,JACKSON C.Ehlers-Danlos syndrome:a historkal review[J].Br J Haematol,2008,141(1):32-35. 被引量:1
  • 5UITTO J.The Ehlers-Danlos syndrome:phenotypic speetrum and molecular genetics[J].Eur J Dermatol,2005,15(5):311-312. 被引量:1
  • 6DE PAEPE A,MALFAIT F.The Ehlers-Danlos syndrome,a disorder with many faees[J].Clin Genet,2012,82(1):1-11. 被引量:1
  • 7PEPIN M U,SUPERTI-FURGAA S.Clinical and genetic features of Ehlers-Danlos syndrome typeⅣ,the vascular type[J].N Engl J Med,2000,342(10):673-680. 被引量:1
  • 8BEIGHTON P,DE PAEPE A.STEINMANN B,et al.Ehlers-Danlos syndromes:revised nosology villefranche,1997[J].Am J Hum Genet,1997,61(4S):A49. 被引量:1
  • 9RITELLI M,DORDONI C,VENTURINI M,et al.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome:identification of 18 COL5A1 and 2 COI5A2 novel mutations[J].Orphanel J Care Dis,2013,8:58.doi;10.1186/1750-1172-8-58. 被引量:1
  • 10FARMER A D,FIKREE A,AZIZ Q.Addressing the confounding role of joint hypermobility syndrome and gastrointestinal involvement in postural orthostatic tachycardia syndrome[J].Clin Auton Res,2014,24(3):157-158. 被引量:1

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