R

 

Rapp-Hodgkin sendromu (orofacial cleft 8; OFC8)

Kalıtsal - AD

AEC sendromunun fenotipi (ankyloblepharon yok)

Ektodermal displazi bulguları

Gelişme geriliği

Saçlar ince

Yarık dudak

Yarık damak

Uvula bifida

Maksilla hipoplazisi (mikrognati)

Hipodonti

Mikrodonti

Konik dişler

Dilde fissürler

Bebeklerde hipertermi

Terleme azlığı

Tırnak displazileri

Erişkinlikte alopesi

Palmar-plantar keratoderma

Dış genital organ anomalileri

 

  • Fosko SW, Stenn KS, Bolognia JL. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. Journal of American Academy of Dermatology, 27(2 Pt 1):249-56, 1992

  • 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

  • Bertola DR, Kim CA, Albano LM, et al. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Clinical Genetics, 66:79–80, 2004

  • Sahin MT, Türel-Ermertcan A, Chan I, et al. Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. Clinical & Experimental Dermatology, 29(5):486-488, 2004

  • Farrington F, Lausten L. Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. American Journal of Medical Genetics A, 149A(9): 1907-1909, 2009

  • 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

  • Clements SE, Techanukul T, Holden ST, et al. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. British Journal of Dermatology, 163(3):624-629, 2010

  • Knaudt B, Volz T, Krug M, et al. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome. European Journal of Dermatology, 22(5):605-613, 2012