LEOPARD sendromu

LEOPARD sendromu (Pigmentli Noonan sendromu, multiple lentigines sendromu), kalıtsal (otosomal dominant) bir sendromdur. 3 fenotipi vardır.[1]

Bulgular[2][3][4]Düzenle

 
Leopard sendromu: Derideki iri çiller nedeniyle leopar derisi görünümü

KaynakçaDüzenle

  1. ^ Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genetics, 39:1007–1012, 2007
  2. ^ Digilio MC, Sarkozy A, de Zorzi A, et al. LEOPARD syndrome: clinical diagnosis in the first year of life. American Journal of Medical Genetics A, 140A: 740-746, 2006
  3. ^ Limongelli G, Pacileo G, Marino B, et al. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. American Journal of Cardiology, 100:736–741, 2007
  4. ^ Kato H, Yoshida R, Tsukamoto K, et al. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). International Journal of Dermatology, 49(10):1146-1151, 2010