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非综合征型先天缺牙1例 被引量：2

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摘要 1病例报告 患者．女．16岁，2012年7月2日因“多数牙未萌出”来院就诊，曾在外院行可摘局部义齿修复。患者既往无拔牙及牙脱落史、无颌面外伤史，无放射治疗史，幼时曾发烧连续用药1月余．用药情况不详。患者体型瘦弱，智力发育正常，学习成绩优异．头发、眉毛浓密，出汗正常，
作者 毛秋华 徐普 程亚楠 卢明智
机构地区 中南大学湘雅医学院附属海口医院.海南省口腔医学中心口腔种植科
出处 《口腔医学研究》 CAS CSCD 2013年第3期283-283,287,共2页 Journal of Oral Science Research
关键词 先天缺牙 非综合征型 可摘局部义齿修复 病例报告 用药情况 连续用药 智力发育 学习成绩
分类号 R783 [医药卫生—口腔医学]
  • 相关文献

参考文献5

  • 1施华丽,刘丽.非综合征型先天缺牙的研究进展[J].现代口腔医学杂志,2010,24(1):69-71. 被引量：9
  • 2Paixao-Cortes VR, Braga T, Salzano FM, et al. PAX9 and MSX1 transcription factor genes in non-syndromicdental a- genesis[J]. ArchOral Biol, 2011, 56(4) : 337-44.
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二级参考文献32

  • 1张晓霞,冯海兰.多个恒牙先天缺失的缺牙特点分析[J].现代口腔医学杂志,2005,19(1):7-9. 被引量：18
  • 2冯海兰,张晓霞,吴华.先天缺牙的研究进展[J].北京大学学报（医学版）,2007,39(1):13-17. 被引量：41
  • 3Das P, Stockton DW, Bauer C, et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet, 2002, 110(4) : 371 -376.
  • 4Jumlongras D, Lin JY, Chapra A , et al. A novel missense mutation in the paired domain of PAX9 caused non - syndremic oligodontia. Hum Genet, 2004, 114(3) : 242 -249.
  • 5Arte S, Nieminen P, Apajalahti S, et al. Characteristics of Incisor - Premolar Hypodontia in Families. Dent Res, 2001,80(5) : 1445- 1450.
  • 6Klein ML, Nieminen P, Lammi L, et al. Novel Mutation of the Initiation Codon of pAX9 Causes Oligodontia. Dent Res, 2005, 84 (1) : 43 -47.
  • 7Dong H, Yu G, Hua W, et al. Novel EDA mutation resulting in X -linked non - syndromie hypedontia and the pattern of EDA - assooiated isolated tooth agenesis. European Journal of Medical Genetics, 2008, 51(6) : 536 -546.
  • 8Tao R, Jin B, Guo SZ, et al. A novel missense mutation of the EDA gone in a Mongolian family with congenital hypodontia. Hum Genet, 2006, 51(5): 498-502.
  • 9Rasool M, Schuster J, Aslam M, et al. A novel missense mutation in the EDA gene associated with X -linked recessive isolated hypodontia. Hum Genet, 2008, 53(10): 894-898.
  • 10Xuan K, Jin F, Lin YL, et al. Identification of a novel missense mutation of MSX1 gene in Chinese family with autesomal - dominant oligodontia. Archives of Oral Biology, 2008, 53(8) : 773 -779.

共引文献8

同被引文献33

  • 1McKusick VA. Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders [J]. 12th ed. Balti- more, MD: Johns Hopkins University Press, 1998.
  • 2Nieminen P. Genetic basis of tooth agenesis [J]. J Exp Zool B Mol Dev Evol, 2009, 312B(4):320-42.
  • 3Zhuan Bian, Wei Yin, Xiaoqian Ye. Molecular Genetic Mechanisms of Congenital Missing Teeth [J]. Chin J Dent Res,2008,11 (2) :84-90.
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  • 5Wei Yin, Xiaoqian Ye, Zhuan Bian. Phenotypic findings in Chinese families with X- linked hypohydrotic ectodermal dysplasia[J]. Archives of oral biology, 2012, 57(10) :1418 -22.
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  • 7Online Mendelian Inheritance in Man of EDA. http://www. ncbi. nlm. nih. gov/omim/305100.
  • 8Vincent MC, Cossee M, Vabres P, Stewart F, Bonneau D, Calvas P., Pitfalls in clinical diagnosis of female carriers of X -linked hypohidrotic ectodermal dysplasia [J]. Arch Der- matol, 2002,138(9): 1256- 8.
  • 9Mues G, Tardivel A, Willen L, et al. Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis [J]. EurJ Hum Genet. 2010,18(1):19-25.
  • 10Li S, Li J, Cheng J, et al. Non-syndromic tooth agenesis in two Chinese families associated with novel missense muta- tions in the TNF domain of EDA (ectodysplasin A)[J]. PLoS One, 2008, 3(6):e2396.

引证文献2

二级引证文献4

口腔医学研究
2013年 第3期

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