Odontoonychodermal sendrom (OOD sendromu; odonto-onycho-dermal dysplasia)

Kalıtsal - AR

Saçlar seyrek

Kaşlar seyrek

Deri ve saçlar kuru

Oligodonti

Hipodonti (üst keser dişlerin eksikliği)

Dilde papillalar silik

Palmaplantar keratoderma

Avuçlar eritemli

Avuçlarda ve tabanlarda aşırı terleme

Deride foliküler hiperkeratoz bulguları

Konjenital tırnak agenezi

Distrofik tırnaklar

 

  • Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. Journal of Medical Genetics,  38:579–585, 2001

  • Lamartine J. Towards a new classification of ectodermal dysplasias. Clinical & Experimental Dermatology,  28:351–355, 2003

  • Megarbané H, Haddad M, Delague V, Renoux J, Boehm N, Megarbane A. Further delineation of the odonto-onycho-dermal dysplasia syndrome. American Journal of Medical Genetics A, 129A:193–197, 2004

  • Adaimy L, Chouery E, Megarbané H, et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. American Journal of Human Genetics, 81:821–828, 2007

  • Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009

  • Bohring A, Stamm T, Spaich C, et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. American Journal of Human Genetics, 85: 97-105, 2009