Overgrowth Syndromes: A Clinical Guide

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Overgrowth Syndromes: A Clinical Guide

Edited by:
Giovanni Neri
Giovanni NeriGreenwood Genetic CenterClose

,
Luigi Boccuto
Luigi BoccutoResearch Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic CenterClose

, and
Roger E. Stevenson
Roger E. StevensonSenior Clinical Geneticist, JC Self Research Institute of Human Genetics, Greenwood Genetic CenterClose

Abstract

This book provides comprehensive details on a number of well-defined genetic disorders and a selection of less well-defined entities that include somatic overgrowth as a major manifestation. In addition to overgrowth, these syndromes each have their own distinguishing characteristics that benefit the clinician in making a specific diagnosis. In most cases, the causative genes are known, giving a means of laboratory confirmation of the diagnoses. A major distinction from other hereditary syndromes is a predisposition of patients with the overgrowth syndromes to develop neoplasms during childhood. In some cases, the overgrowth seems to be limited, even to the extent that some growth parameters may return to the normal range by adulthood. In other cases, the overgrowth is notable throughout life. In recent years, both the generalized and the segmental overgrowth syndromes have begun to yield their secrets to molecular technologies. These studies have provided clinicians a way to confirm the specific diagnosis so they can provide appropriate counseling and anticipatory management. In the case of segmental overgrowth disorders, they have also established their mosaic nature, which explains the sporadic occurrence and marked phenotype variability.

Bibliographic Information

Publisher:: Oxford University Press

Print Publication Date:: Feb 2019

Print ISBN-13:: 9780190944896

Published online:: Mar 2019

DOI:: 10.1093/med/9780190944896.001.0001

Authors

Giovanni Neri, editor Greenwood Genetic Center

Luigi Boccuto, editor Research Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center

Roger E. Stevenson, editor Senior Clinical Geneticist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center

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Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breastfeeding.

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Front Matter
- Preface
- Contributors
1 Overview on Overgrowth and Overgrowth SyndromesLuigi Boccuto, Giovanni Neri, and Roger E. Stevenson
2 Selection of Less-Prevalent Overgrowth Syndromes Roger E. Stevenson and Bryan D. Hall
3 Beckwith-Wiedemann SyndromeAlessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, and Giovanni Battista Ferrero
4 Sotos SyndromePablo Lapunzina and Jair A. Tenorio
5 Weaver Syndrome and EZH2-Related Overgrowth SyndromesDavid D. Weaver
6 Simpson-Golabi-Behmel SyndromeGiovanni Neri
7 Perlman SyndromeGiovanni Neri
8 Malan SyndromeManuela Priolo, Martin Zenker, and Raoul C. Hennekam
9 PTEN-Related Overgrowth SyndromesLamis Yehia, Joanne Ngeow, and Charis Eng
10 Lateralized Overgrowth: Hemihypertrophy and HemihyperplasiaJennifer M. Kalish, Giovanni Battista Ferrero, and Alessandro Mussa
11 Proteus SyndromeLeslie G. Biesecker
12 PIK3CA-Related Overgrowth SpectrumKim M. Keppler-Noreuil
13 Vascular AnomaliesLara Wine Lee and Cameron C. Trenor, III
End Matter
- Index

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date: 27 January 2022

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