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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

Dandy-Walker malformasyonları

Bkz Weyers acrodental dysostosis

Bkz “short-rib thoracic dysplasia” sendromları kümesi

 

• 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

• 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

• Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009

• Jenkins S, Morrell DS. Ellis-van Creveld syndrome: case report and review of the literature. Cutis, 83(6):303-305, 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

• 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

• 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

• Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

• 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

 

 

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