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Cohen sendromu

Kalıtsal - AR

Gelişme geriliği

Mikrosefali

Badem gözler

Retina distrofisi

Optik atrofi

Progressif myopi

Fasiyal hipotoni

Filtrum kısa

Maksilla hipoplazisi (mikrognati)

Dar-çukur damak

İri maksiller orta kesiciler

Aftlı stomatit

Periodontal patolojiler

Mitral kapak prolapsusu

Nötropeni

Puberteye doğru belirginleşen obezite

Skolyoz

El ve ayaklar küçük

Eklemlerde gevşeklik

Serebella hipoplazi

Epilepsi

Hipotoni

Psikomotor gerilik

 

  • Hurmerinta K, Pirinen S, Kovero O, Kivitie-Kallio S. Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients. Clinical Genetics, 62:157–164, 2002

  • Chandler KE, Kidd A, Al-Gazali L, et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. Journal of Medical Genetics, 40:233–241, 2003

  • Kolehmainen J, Wilkinson R, Lehesjoki AE, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. American Journal of Human Genetics, 75:122–127, 2004

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

  • Rivera-Brugues N, Albrecht B, Wieczorek D, et al. Cohen syndrome diagnosis using whole-genome arrays. Journal of Medical Genetics, 48: 136-140, 2011

  • Duplomb L, Duvet S, Picot D, et al. Cohen syndrome is associated with major glycosylation defects. Human Molecular Genetics, 23: 2391-2399, 2014