Article
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.
Journal of medical genetics - 20 Mar 2025
Gazzin Andrea, Reynolds Giuseppe, Massuras Stefania, Luca Maria, Coppo Paola, Carli Diana, Piglionica Marilidia, Martino Stefania, Bagnulo Rosanna, Ferrero Giovanni Battista, Resta Nicoletta, Mussa Alessandro
Abstract excerpt
Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% compared with the unaffected contralateral one. LO is a key feature in various syndromic overgrowth disorders, such as Beckwith-Wiedemann spectrum and PIK3CA-related overgrowth spectrum (PROS). However, it can also present as isolated (ILO). Defining the aetiology of LO is critical due to the...
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