hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...