A

 

ADULT sendromu (acro-dermo-ungual-lacrimal-tooth)

Kalıtsal - AD

Ektodermal displaziyi anımsatan bulgular

Akromelik malformasyonlar

El ve ayak yarıkları

Sindaktili

Deri kuru/atrofik

İnce-kırılgan açık renkli saçlar

Saçlarda erken dökülme

Deride yaşla artan yoğun çil oluşması (tipik bulgu)

Tırnak displazileri

Gözyaşı kanalı atrezisi

Konjunktivit

Hipodonti

Oligodonti

Displastik dişler

Periodontal patolojiler

Dişlerin erken yitirilmesi

Meme/meme ucu hipoplazisi

Ayrıca bkz Limb-mammary sendromu

 

  • Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T. TP63 gene mutation in ADULT syndrome. European Journal of Human Genetics, 9:642–645, 2001

  • Brunner HG, Hamel BC, Van Bokhoven H. P63 gene mutations and human developmental syndromes. American Journal of Medical Genetics, 112(3):284-290, 2002

  • Brunner HG, Hamel BC, Van Bokhoven H. The p63 gene in EEC and other syndromes. Journal of Medical Genetics, 39(6):377-381, 2002

  • Reisler TT, Patton MA, Meagher PPJ. Further phenotypic and genetic variation in ADULT syndrome. American Journal of Medical Genetics, 140A: 2495-2500, 2006

  • Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007

  • van Zelst-Stams WAG, van Steensel MAM. A Novel TP63 Mutation in family with ADULT syndrome presenting with eczema and hypothelia. American Journal of Medical Genetics A, 149A:1558–1560, 2009

  • Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. University of Washington, Seattle; 2010

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011