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Acro-dermato-ungual-lacrimal-tooth syndrome:case report 被引量：2

Acro-dermato-ungual-lacrimal-tooth syndrome:case report
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摘要 Acro-dermato-ungual-lacrimal-tooth syndrome （ADULT syndrome, OMIM 103285） is a rarely seen ectodermal dysplasia disorder first described by Propping and Zerres in 1993. ADULT syndrome is known as an autosomal dominant disorder. Only a family constellation and four independent cases were reported worldwide up to now. Here, we report a case of ADULT syndrome, which is the first case reported from China. Acro-dermato-ungual-lacrimal-tooth syndrome （ADULT syndrome, OMIM 103285） is a rarely seen ectodermal dysplasia disorder first described by Propping and Zerres in 1993. ADULT syndrome is known as an autosomal dominant disorder. Only a family constellation and four independent cases were reported worldwide up to now. Here, we report a case of ADULT syndrome, which is the first case reported from China.
作者 YANG Jian ZHANG Hong-juan YANG Wen-lin CHEN Guang-sheng TANG Zhi-wei CHEN Shuang YE Wen-hong
机构地区 Department of Dermatology Department of Stomatology Department of Radiology Department of Medical Genetics and Cell Biology
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2007年第9期851-853,共3页 中华医学杂志（英文版）
基金 This study was supported by a grant from Guangdong Natural Science Foundation in 2006(No.06022455).
关键词 acro-dermato-ungual-lacrimal-tooth （ADULT） syndrome ectodermal dysplasia abnormalities congenital acro-dermato-ungual-lacrimal-tooth （ADULT） syndrome ectodermal dysplasia abnormalities, congenital
分类号 R682.1 [医药卫生—骨科学]
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参考文献10

  • 1Propping P,Friedl W,Wienker TF,Uhlhaas S,Zerres K.ADULT syndrome allelic to limb mammary syndrome(LMS)[].American Journal of Medical Genetics.2000
  • 2O′Brien KE,Shorrock J,Bianchi DW.Prenatal diagnosis of acro-dermato-ungual-lacrimal-tooth syndrome,a dominantly inherited ectrodactyly[].Journal of Ultrasound in Medicine.2002
  • 3South AP,Ashton GH,Willoughby C,Ellis IH,Bleck O,Hamada T,et al.EEC(Ectrodactyly,Ectodermal dysplasia,Cleffing)syndrome:heterozygous mutation in the p63 gene(R279H)and DNA-based prenatal diagnosis[].Br J Dermatol.2002
  • 4Propping P,and Zerres K.ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia[].American Journal of Medical Genetics.1993
  • 5Amiel J,Bougeard G,Francannet C,et al.TP63 gene mutationin ADULTsyndrome[].European Journal of Human Genetics.2001
  • 6Chan I,Harper JI,Mellerio JE,McGrath JA.ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene[].Clinical and Experimental Dermatology.2004
  • 7Slavotinek AM,Tanaka J,Winder A,Vargervik K,Haggstrom A,Bamshad M.Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlapwith ulnar-mammary syndrome and a new mutation in TP63[].American Journal of Medical Genetics.2005
  • 8Priolo M,Lagana C.Ectodermal dysplasias: a new clinical-genetic classification[].Journal of Medical Genetics.2001
  • 9Lamartine J.Towards a new classification of ectodermal dyspla-sias[].Clinical and Experimental Dermatology.2003
  • 10Duijf PH,Vanmolkot KR,Propping P,Friedl W,Krieger E,McKeon F,Dotsch V,Brunner HG,van Bokhoven H.Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63[].Human Molecular Genetics.2002

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Chinese Medical Journal
2007年 第9期

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