Overgrowth Syndromes

Abstract

Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall–Smith, Weaver, Simpson–Golabi–Behmel, Perlman, Bannayan–Riley–Ruvalcaba, PI3K-related, Proteus, Beckwith–Wiedemann, fibrous dysplasia, Klippel–Trenaunay–Weber, and Maffucci.

Keywords

overgrowth syndrome - Sotos - Malan - Marshall–Smith - Simpson–Golabi–Behmel - Perlman - Bannayan–Riley–Ruvalcaba - PI3K-related - Proteus - Beckwith–Wiedemann

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