Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096ep56 | Growth and Syndromes | IMPE2023

Noonan syndrome: a cause of short stature with cardiac manifestations and characteristic facial phenotype

Cristina Martinez Rueda Silvia , del Pilar Montilla Velasquez Maria , Victoria Lopera Cañaveral Maria , Pineda Trujillo Nicolas , Camilo Martinez Salgado Juan , Gomez Rojas Susana

The Noonan syndrome (NS) is part of the rasopathies. Rasopathies are autosomal dominant and recessive disorders due to mutations in genes encoding components or regulators of the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway, which is essential for cell cycle differentiation, growth, and senescence This syndrome presents three cardinal characteristics: distinctive facial features, postnatal short stature, and cardiac abnormalities. NS coexists with mi...