R

 

Revesz sendromu

Dyskeratosis congenita kümesi fenotipi

Kalıtsal - AD

İntrautrin gelişme geriliği

İlk bulgular çocukluk yaşlarında

Bilateral eksüdatif retinopati

Nistagmus

Retina tümsekleri

Megalokornea

Dilde lökoplaki

İntrakraniyal kalsifikasyonlar

Serebellum hipoplazisi

Ataksi

Psikomotor gerilik

Hipertoni

Tırnaklarda distrofi

Saçlar ince/seyrek

Aplastik anemi

 

  • Revesz T, Fletcher S, al Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? Journal of Medical Genetics, 29:673–675, 1992

  • Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood, 107:2680–2685, 2006

  • Baran I, Nalçacı R, Koçak M. Dyskeratosis congenita: clinical report and review of the literature. International Journal of Dental Hygiene, 8(1):68-74, 2010

  • Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clinical Genetics, 81: 470-478, 2012

  • Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Review of Hematology, 6(3):327-337, 2013