Description
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
Preface1. Overview on Overgrowth and Overgrowth SyndromesLuigi Boccuto, Giovanni Neri, Roger E. Stevenson2. Selection of Less-Prevalent Overgrowth Syndromes Roger E. Stevenson, Bryan D. Hall 3. Beckwith-Wiedemann SyndromeAllessandro Mussa, Jennifer M. Kalish, Flavia Cerrato, Andrea Riccio, Giovanni Battista Ferrero4. Sotos SyndromePablo Lapunzina, Jair A. Tenorio5. Weaver Syndrome and EZH2-Related Overgrowth SyndromesDavid D. Weaver6. Simpson-Golabi-Behmel Syndrome Giovanni Neri7. Perlman Syndrome Giovanni Neri8. Malan Syndrome Manuela Priolo, Martin Zenker, Raoul C. Hennekam9. PTEN-Related Overgrowth Syndromes Lamis Yehia, Joanne Ngeow, Charis Eng10. Lateralized Overgrowth - Hemihypertrophy and Hemihyperplasia Jennifer M. Kalish, Giovanni Battista Ferrero, Alessandro Mussa11. Proteus Syndrome Leslie G. Biesecker12. PIK3CA-Related Overgrowth Spectrum Kim M. Keppler-Noreuil13. Vascular Anomalies Lara Wine Lee, Cameron TrenorIndex
