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克鲁宗综合征伴脑脊液鼻漏二例 被引量:1

Crouzon syndrome with cerebrospinal rhinorrhea: report of two cases
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摘要 克鲁宗综合征(Crouzon syndrome,Cs)是一种因颅缝早闭导致先天性颅面畸形的常染色体显性遗传性疾病,与10号染色体(q25-q26)上编码成纤维生长因子受体-2基因突变有关,由法国神经病学家Octave Crouzon于1912年首次报道[1].文献报道新生儿发病率为1/2.5万[2],人群发病率约为16/100万[3].按疾病严重程度可分为5型:上颌型、颜面型、颅型、颅面型及假性CS[4].
作者 陈函 王明婕 周兵 Chen Han;Wang Mingjie;Zhou Bing(Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China)
出处 《中华耳鼻咽喉头颈外科杂志》 CAS CSCD 北大核心 2017年第12期941-943,共3页 Chinese Journal of Otorhinolaryngology Head and Neck Surgery
基金 北京市医院管理局“登峰”人才培养计划(DFL201502020) 北京市教委科技计划项目(KZ201410025029)
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  • 2Bowling EL, Burstein FD.Crouzonsyndrome[J].Optometry, 2006, 77:217-222.
  • 3Nagaraju K, Ranadheer E, Suresh P, et al.Cephalometric analysis of hard and sott tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzonsyndrome [J].J Indian Soc Pedod Prev Dent, 2011,29:315-319.
  • 4Padmanabhan V, Hegde AM, Rai K. Crouzon's syndrome: A review of literature and case report[J].Contemp Clin Dent, 2011,2:211-214.
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  • 6Federico DR, Corinne C, Laurence LM, et al.Crouzon syndrome with aeanthosisnigrieans: a case-based update [J].Child's Nervous System, 2011,27:349-354.
  • 7Stenirri S, Restagno G, Ferrero GB, et al.Integrated strategy for fast and automated molecular characterization of genes involved in craniosynestosis[J].Clin Chem, 2007, 53 : 1767-7174.
  • 8Francesco C, Anna A, Camillo C.Crouzon Syndrome:Cephalometric Analysis and Evalution of Pathogenesis [J]. Cleft Palate Craniofac J, 1994, 31 (3):201-209.
  • 9Connolly JP, Gruss J, Seto ML, et al.Progressive postnatal craniosynostosis and increased intracranial pressure [J]. Plast Reconstr Surg, 2004,113:1313 - 1323.
  • 10Cohen SR,Dauser RC,Gorski JL.Insidious onset of familial craniosynostosis[J].Cleft Palate Craniofac J, 1993,30:401-405.

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