1. Overview on Overgrowth and Overgrowth Syndromes
2. Selection of Less-Prevalent Overgrowth Syndromes
3. Beckwith-Wiedemann Syndrome
4. Sotos Syndrome
5. Weaver Syndrome and EZH2-Related Overgrowth Syndromes
6. Simpson-Golabi-Behmel Syndrome
7. Perlman Syndrome
8. Malan Syndrome
9. PTEN-Related Overgrowth Syndromes
10. Lateralized Overgrowth - Hemihypertrophy and Hemihyperplasia
11. Proteus Syndrome
12. PIK3CA-Related Overgrowth Spectrum
13. Vascular Anomalies
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.
• A definitive clinical reference for diagnosis and laboratory testing of generalized and segmental overgrowth syndromes
• Highly illustrated and referenced, including clinical guidelines and causative genes
• Assembled by a global team of the world's experts in overgrowth syndromes
• Accounts for all aspects of overgrowth phenotypes, including those that persist across the lifespan and those that return to normal range by adulthood
• Provides a comprehensive survey of the genetic alterations and molecular mechanisms underlying the major overgrowth syndromes
• Includes consideration for genetic 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, Universita 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.