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 worlds leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decades sweeping advances in understanding general and segmental overgrowth, including the latters 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.
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;
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