Overgrowth Syndromes

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.

 

Table of Contents
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

 

Giovanni Neri, Senior Genetics Scholar, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Edited by Luigi Boccuto, Research Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, and Edited by Roger E. Stevenson, Senior Clinical Geneticist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center