Overgrowth Syndromes: A Clinical Guide [Hardcover]

Overgrowth Syndromesis 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.Overgrowth Syndromesis 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.Preface1. Overview on Overgrowth and Overgrowth SyndromesLuigi Boccuto, Giovanni Neri, Roger E. Stevenson2. Selection of Less-Prevalent Overgrowth SyndromesRoger E. Stevenson, Bryan D. Hall3. 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 SyndromeGiovanni Neri7. Perlman SyndromeGiovanni Neri8. Malan SyndromeManuela Priolo, Martin Zenker, Raoul C. Hennekam9. PTEN-Related Overgrowth SyndromesLamis Yehia, Joanne Ngeow, Charis Eng10. Lateralized Overgrowth - Hemihypertrophy an