AEC sendromu

Ankyloblepharon-Ectodermal defects-Cleft lip/palate

Hay-Wells sendromu

Kalıtsal - AD

Kirpikler seyrek ya da yok

Göz kapakları yapışıklığı

Gözyaşı kanalı tıkanıklığı

Konjunktivit

Alın bombesi yüksek

İşitme sorunları

Basık/yayvan burun

Burun kanatları hipoplazisi

Ağız küçük (microstomia)

Üst dudak vermilionu ince

Maksilla hipoplazisi

Mikrognati

Yarık dudak

Yarık damak

Mesiodens

Hipodonti

Dişlerde biçim anomalileri

Trismus

Kuru ve çatlak deri

Kıllar seyrek

Hiperkeratoz

Saçlı deride, boyunda ve ekstremitelerde erozyonlar

Hipopigmentasyon

Terleme az (hipohidrozis)

Tırnaklarda displazi/aplazi

Kalpte septum defektleri

Süpernümerer meme uçları

Sindaktili

Mikropenis

İnmemiş testis

Fenotip: Rapp-Hodgkin sendromu

 

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• Zenteno JC, Venegas C, Kofman-Alfaro S. Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease.

• Pediatric Dermatology, 16(2):103-107, 1999

• 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

• Şahin 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

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

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

• 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

• Dishop MK, Bree AF, Hicks MJ. Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. American Journal of Medical Genetics, 149A:1935–1941, 2009

• Cole P, Hatef DA, Kaufman Y, et al. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. American Journal of Medical Genetics A, 149A(9):1910-1915, 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

• Chan MY, Shifteh K, Shanske AL. Mesiodens, a new microform of Holoprosencephaly? American Journal of Medical Genetics, 149A:268–271, 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

• Rachisan AL, Cainap S, Andreica M, Miu N. Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome. Iran Journal of Pediatrics, 21(1):121-125, 2011

 

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