The case of 17-year-old male with LEOPARD syndrome

LEOPARD syndrome is a phenotypic expression of mutations in several genes: PTPN11, RAF1, and BRAF. All these genes are responsible for Ras/MARK signaling pathway, which are important for cell cycle regulation, differentiation, growth, and aging. Mutations result in anomalies of skin, skeletal, and cardiovascular systems. The LEOPARD syndrome means lentigines, electrocardiographic conducting abnormalities, ocular hypertelorism, pulmonary...