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Overgrowth syndromes

Neylon, Orla M.; Werther, George A.; Sabin, Matthew A.

doi: 10.1097/MOP.0b013e3283558995
ENDOCRINOLOGY AND METABOLISM: Edited by Allen W. Root

Purpose of review: Human growth ensues from a complex interplay of physiological factors, in the wider setting of varying genetic traits and environmental influences. Intensive research in these divergent areas, and particularly in the field of genetics, continues to clarify the molecular basis of disorders which result in overgrowth, and it is therefore timely to provide a review of these findings.

Recent findings: This article provides an overview of the factors which regulate growth, followed by a discussion of the more commonly encountered overgrowth syndromes and their genetic basis as it is understood at the current time. There is also an added focus on recently discovered genetic associations in some conditions, such as Weaver, Perlman and Proteus syndromes.

Summary: New discoveries continue to be made regarding the genetic basis for many overgrowth syndromes and the development of a much needed molecular classification system for overgrowth may become possible as the interlinking functions of these genes on growth are unravelled. As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from those causing prenatal overgrowth with a poor prognosis to less severe genetic aberrations which are identified in later childhood or adult life.

Murdoch Childrens Research Institute, Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia

Correspondence to Dr Matthew A. Sabin, Department of Endocrinology and Diabetes, Royal Children's Hospital, 50 Flemington Road, Parkville, VIC 3052, Australia. Tel: +61 3 9345 5951; fax: +61 3 9345 6240; e-mail: matthew.sabin@mcri.edu.au

© 2012 Lippincott Williams & Wilkins, Inc.