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LEOPARD sendromu (Pigmentli Noonan sendromu, multiple lentigines sendromu)

Kalıtsal - AD

3 fenotip

Gelişme geriliği

Pterygium colli

Hipertelorizm

Ptozis

Parietal kemikler çıkıntılı

İşitme sorunları

Yüz üçgen biçiminde

Yüzde1-5 mm çapında iri çiller

Mukozalarda pigmentasyon yok

Prognatizm

Yarık damak

Periodontal patolojiler

Deride 1-5 mm çapında iri çiller (café-au-lait)

Hipertrofik kardiyomyopati

Pulmoner kapak stenozu

İskelet sistemi anomalileri

Kifoskloyoz

Ürogenital anomaliler

Puberte gecikmesi

Ayrıca bkz Noonan sendromu

 

  • Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). Journal of Medical Genetics, 34:582–586, 1997

  • 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

  • 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

  • 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

  • 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

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