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.
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Pediatric Dermatology, 16(2):103-107, 1999
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Brunner HG, Hamel BC, Van Bokhoven H. P63 gene mutations and human developmental syndromes. American Journal of Medical Genetics, 112(3):284-290, 2002
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Brunner HG, Hamel BC, Van Bokhoven H. The p63 gene in EEC and other syndromes. Journal of Medical Genetics, 39(6):377-381, 2002
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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
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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
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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
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Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007
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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
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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
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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
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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
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Chan MY, Shifteh K, Shanske AL. Mesiodens, a new microform of Holoprosencephaly? American Journal of Medical Genetics, 149A:268–271, 2009
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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
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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