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J Pediatr Genet 2015; 04(03): 136-143
DOI: 10.1055/s-0035-1564440
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Overgrowth Syndromes

Andrew C. Edmondson
1   Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
Jennifer M. Kalish
1   Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States
› Author Affiliations
Further Information

Publication History

15 May 2015

20 May 2015

Publication Date:
25 September 2015 (online)

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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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