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