The Journal of Clinical Endocrinology & Metabolism
Giuseppa Patti, Nadia Gabriella Maiorano, Francesca Piccoli, Alice Zucconi, Maria Grazia Calevo, Federica Tamburrino, Emanuela Scarano, Concetta Schiavariello, Cesare Rossi, Laura Mazzanti, Eleonora Orlandini, Gabriella Pozzobon, Martina Finamore, Cristina Baldoli, Anna Grandone, Mario Cirillo, Francesca Aiello, Domenico Corica, Malgorzata Wasniewska, Alessandro Cattoni, Paolo Remida, Donatella Capalbo, Fabio Tortora, Maria Carolina Salerno, Sara Azzolini, Mariam Mansour, Maria Felicia Faienza, Stefano Palladino, Domenico Tortora, Giulia Rosti, Francesca Faravelli, Cristina Venturino, Pasquale Capuozzo, Letizia De Mori, Paola Maietta, Anna Elsa Maria Allegri, Chiara Morreale, Alessia Angelelli, Flavia Napoli, Natascia Di Iorgi
Abstract Context Neuroradiological findings in Noonan syndrome (NS) remain insufficiently characterized Objective To characterize neuroimaging abnormalities in children with genetically confirmed NS and evaluate their associations with clinical phenotype Design, Setting, and Participants In this multicenter retrospective study, brain MRI scans and longitudinal clinical and genetic data were reviewed from children with genetically confirmed NS evaluated between 2008 and 2023 at seven pediatric endocrinology centers …