Ellis-van Creveld sendromu (chondroectodermal dysplasia)
Kalıtsal - AR
22 fenotip
Cücelik (kıkırdak displazisi)
Dişleri, tırnakları ve saçları ilgilendiren ektodermal displazi bulguları
Nazolabial sulkus yokluğu
Üst dudakta tam olmayan ve yalancı yarıklar
Üst dudak hipoplazisi
Üst dudak alveol kretine yapışık (oluk yok)
Alt ve üst dudaklarda çok sayıda frenulumlar
Natal konik dişler
Hipodonti (alt kesiciler)
Hipohiperdonti (hipodonti+süpernümerer diş)
Mikrodonti
Taurodontism
Gingival hiperplazi
Köklerde füzyon (tek köklü 1.molar)
Konjenital kalp anomalileri (cor trioculare; tek atrium)
Splenomegali
İnmemiş testis
Vücut kılları ve saçlar ince ve seyrek
Ekstremitelerin distal bölümleri kısa
Kostalar kısa
Toraks displazisi (dar-uzun toraks)
Polidaktili
Parmaklar kısa
Tırnaklar hipoplazik
Bkz Weyers acrodental dysostosis
Bkz “short-rib thoracic dysplasia” sendromları kümesi
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Tompson SW, Ruiz-Perez VL, Blair HJ, et al. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Human Genetics, 120(5):663-670, 2007
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Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 151C(4):341-351, 2009
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Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009
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Jenkins S, Morrell DS. Ellis-van Creveld syndrome: case report and review of the literature. Cutis, 83(6):303-305, 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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Hanemann JA, de Carvalho BC, Franco EC. Oral manifestations in Ellis-van Creveld syndrome: report of a case and review of the literature. Journal of Oral and Maxillofacial Surgery, 68(2):456-460, 2010
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Hills CB, Kochilas L, Schimmenti LA, Moller JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatric Cardiology, 32(7):977-982, 2011
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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O'Connor MJ, Collins RT 2nd. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatric Cardiology, 33(4):491-492, 2012