Overgrowth Syndromes A Clinical Guide

Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.

Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.

Giovanni Neri, MD, is a Senior Genetics Scholar at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center; and Professor (retired) of Medical Genetics, Università Cattolica del S. Cuore, Roma.

Luigi Boccuto, MD, is a Research Scientist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center.

Roger E. Stevenson, MD, is a Senior Clinical Geneticist at the JC Self Research Institute of Human Genetics, Greenwood Genetic Center.

Preface

1. Overview on Overgrowth and Overgrowth Syndromes
Luigi Boccuto, Giovanni Neri, Roger E. Stevenson

2. Selection of Less-Prevalent Overgrowth Syndromes
Roger E. Stevenson, Bryan D. Hall

3. Beckwith-Wiedemann Syndrome
Allessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, Giovanni Battista Ferrero

4. Sotos Syndrome
Pablo Lapunzina, Jair A. Tenorio

5. Weaver Syndrome and EZH2-Related Overgrowth Syndromes
David D. Weaver

6. Simpson-Golabi-Behmel Syndrome
Giovanni Neri

7. Perlman Syndrome
Giovanni Neri

8. Malan Syndrome
Manuela Priolo, Martin Zenker, Raoul C. Hennekam

9. PTEN-Related Overgrowth Syndromes
Lamis Yehia, Joanne Ngeow, Charis Eng

10. Lateralized Overgrowth - Hemihypertrophy and Hemihyperplasia
Jennifer M. Kalish, Giovanni Battista Ferrero, Alessandro Mussa

11. Proteus Syndrome
Leslie G. Biesecker

12. PIK3CA-Related Overgrowth Spectrum
Kim M. Keppler-Noreuil

13. Vascular Anomalies
Lara Wine Lee, Cameron Trenor

Index