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口-面-指(趾)综合征Ⅰ型1例报告 被引量：2

Oral-facial-digits syndromeⅠ:Case report
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摘要 报告1例口-面-指(趾)综合征Ⅰ型患者,进行腭、舌和多生趾的矫正手术,术后患者舌运动接近正常,而语音功能不能完全恢复。认为患者的功能恢复取决于智力发育状况,OFDⅠ基因突变在发病中可能起着重要作用。 To report a case of oral-facial-digits syndromeⅠwho underwent plastic surgery of tongue,palate and digital abnormalities.The tongue of the patient restored normal mobility approximately but the speech function could not recover completely.The function recovery of the patient depended on the degree of mental retardation,its possible mechanism was the mutation of OFDⅠgene.
作者 邵现红 付其宏 刘杨 朱保
机构地区 杭州市口腔医院口腔颌面外科
出处 《上海口腔医学》 CAS CSCD 2004年第3期213-213,216,共2页 Shanghai Journal of Stomatology
关键词 口-面-指(趾)综合征 OFD Ⅰ基因 腭裂 Oral-facial-digits syndromeⅠ OFDⅠgene Cleft plate
分类号 R725.9 [医药卫生—儿科]
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参考文献6

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  • 2Salinas C,Pai Vera C, Milutinovich J, et al.Variability of expression of the orofacial digital syndrome type Ⅰ in black females: six cases[J].Am J Med Genet, 1991,38,574-582.
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  • 6Rakkolalnen A, Ala-Mello S, Kristo P,et al. Four novel mutations in the OFD Ⅰ (Cxorf5) gene in Finish patients with oral-facialdigital Ⅰ [J].J Med Genet,2002,39,292-296.

同被引文献17

  • 1马思维,文抑西.口-面-指(趾)综合征Ⅰ型两例报告[J].中国美容医学,2007,16(2):220-222. 被引量：5
  • 2苏宇雄,廖贵清,侯劲松,陈亦阳,王剑宁.口-面-指综合征Ⅰ型1例报告[J].中国口腔颌面外科杂志,2004,2(3):230-232. 被引量：5
  • 3Gurrieri F,Franco B,Toriello H,et al.Oral-facial-digital syndromes:review and diagnostic guidelines[J].2007,143A(24):3314-3323.
  • 4Nowaczyk MJ,Zeesman S,Whelan DT,et al.Oral-facial-digital syndrome VII is oral-facial-digital syndrome 1:a clarification[J].Am J Med Genet A,2003,123A(2):179-182.
  • 5Doege TC,Thuline HC,Priest JH,et al.Studies of a family with the oral-facial-digital syudrome[J].N Engl J Med,1964,271:1073-1078.
  • 6Feather SA,Winyard PJ,Dodd S.et al.Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease:clinical,radiological and histopathoiogical features of a new kindred[J].Nephrol Dial Transplant,1997,12:1354-1361.
  • 7Ferrante MI,Oiorgio G,Feather SA,et al.Identification of the gene for oral-facial-digital type I syndrome[J].Am J Hum Genet,2001,68(3):569-576.
  • 8Thauvin R C,Cossee M,Cormier D V,et al.Clinical,molecular,and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1:a French and Belgian collaborative study[J].J Mad Genet,2006,43:54-61.
  • 9Prattichizzo C,Macca M,Novelli V,et ai.Mutational spectrum of the oral-facial-digital type I syndrome:a study on a large collection of patients[J].Hum Mutat,2008,29:1237-1246.
  • 10McLaughlin K,Neilly JB,Fox JG,et al.The hypertensive young lady with renal cysts-it is not always polycystic kidney discasc[J].Nephrol Dial Transplant,2000,15:1245-1247.

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上海口腔医学
2004年 第3期

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