hrp0095p1-318 | Growth and Syndromes | ESPE2022

The molecular study of Ras/MAPK pathway and treatment of short stature in Noonan syndrome

Castro-Feijóo Lidia , Cabanas Rodríguez Paloma , E Heredia Ramírez Claudia , Martínez Isabel , López Abel Bernardo , Eiris Puñal Jesús , Barros Angueira Francisco , Loidi Lourdes , Barreiro Conde Jesús

Mutations in genes of the RAS/MAPK signalling pathway have been shown to cause several syndromes characterized by dysmorphic features, growth retardation, cognitive impairment, heart disease and cutaneous abnormalities. The GHrh treatment has been used to improve growth in children with Noonan syndrome.Material and methods: 201 cases of patients referred with clinical suspicion of S. Noonan and other RASopathies was studied. Analysis of ...