Overgrowth Syndromes

A Clinical Guide

Edited by Giovanni Neri, Luigi Boccuto, and Roger E. Stevenson

Oxford Monographs on Medical Genetics

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

Overgrowth Syndromes

A Clinical Guide

Edited by Giovanni Neri, Luigi Boccuto, and Roger E. Stevenson

Oxford Monographs on Medical Genetics

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.

Overgrowth Syndromes

A Clinical Guide

Edited by Giovanni Neri, Luigi Boccuto, and Roger E. Stevenson

Oxford Monographs on Medical Genetics

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

Overgrowth Syndromes

A Clinical Guide

Edited by Giovanni Neri, Luigi Boccuto, and Roger E. Stevenson

Oxford Monographs on Medical Genetics

Author Information

Edited by 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

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.

Contributors:

Leslie G. Biesecker, MD
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland

Luigi Boccuto, MD
JC Self Research Institute of Human Genetics
Greenwood Genetic Center
Greenwood, South Carolina

Flavia Cerrato, PhD
Department of Environmental Biological and Pharmaceutical Sciences and Technologies
University of Campania "Luigi Vanvitelli"
Caserta, Italy

Charis Eng, MD, PhD, FACP
Genomic Medicine Institute
Lerner Research Institute
Taussig Cancer Institute
Cleveland Clinic
Cleveland, Ohio

Giovanni Battista Ferrero, MD, PhD
Department of Public Health and Pediatric Sciences
University of Torino
Torino, Italy

Bryan D. Hall, MD
Greenwood Genetic Center
Greenwood, South Carolina

Raoul C. Hennekam, MD, PhD
Department of Clinical Genetics
Department of Pediatrics
University of Amsterdam
Amsterdam, North Holland
Netherlands

Jennifer M. Kalish, MD, PhD
Division of Human Genetics
Children's Hospital of Philadelphia
Department of Pediatrics, Perelman School of Medicine
University of Pennsylvania
Philadelphia, Pennsylvania

Kim M. Keppler-Noreuil, MD
National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland

Pablo Lapunzina, MD, PhD
CIBERER, Centro de Investigacion Biomedica en Red de Enfermedades Raras
Molecular Endocrinology Unit - Overgrowth Syndromes Laboratory and Clinical Genetics Unit
INGEMM, Instituto de Genetica Medica y Molecular, IdiPAZ, Hospital Universitario la Paz Universidad Autonoma de Madrid
Madrid, Spain

Lara Wine Lee, MD, PhD
Department of Dermatology and Dermatologic Surgery
Medical University of South Carolina
Charleston, South Carolina

Alessandro Mussa, MD, PhD
Department of Public Health and Pediatric Sciences
University of Torino and Neonatal Intensive Care Unit
Department of Gynaecology and Obstetrics
Sant'Anna Hospital, Citta della Salute e della Scienza
Torino, Italy

Giovanni Neri, MD
JC Self Research Institute of Human Genetics
Greenwood Genetic Center
Greenwood, South Carolina

Istituto di Genetica Medica
Universita Cattolica del S. Cuore
Rome, Italy

Joanne Ngeow, MBBS, FRCP, MPH
Lee Kong Chian School of Medicine, Nanyang Technological University
Cancer Genetics Service, Division of Medical Oncology
National Cancer Centre SIngapore
Oncology Academic Clinical Program, Duke-NUS Graduate Medical School
Singapore

Manuela Priolo, MD
Unita Operative di Genetica Medica
Grande Ospedale Metroplitano Bianchi-Melacrino-Morelli
Reggio Calabria, Italy

Andrea Riccio, MD, PhD
Department of Environmental Biological and Pharmaceutical Sciences and Technologies
University of Campania "Luigi Vanvitelli" of Caserta
Institute of Genetics and Biophysics "A. Buzzati-Traverso" - CNR
Naples, Italy

Roger E. Stevenson, MD
JC Self Research Institute of Human Genetics
Greenwood Genetic Center
Greenwood, South Carolina

Jair A. Tenorio, PhD
CIBERER, Centro de Investigacion Biomedica en Red de Enfermedades Raras
Molecular Endocrinology Unit - Overgrowth Syndromes Laboratory, INGEMM
Instituto de Genetica Medica y Molecular, IdiPAZ
Hospital Universitario la Paz
Universidad Autonoma de Madrid
Madrid, Spain

Cameron C. Trenor, III, MD
Division of Hematology and Oncology
Boston Children's Hospital
Department of Pediatrics
Harvard Medical School
Boston, Massachusetts

David D. Weaver, MS, MD
Department of Medical and Molecular Genetics
Indiana University School of Medicine
Indianapolis, Indiana

Lamis Yehia, PhD
Genomic Medicine Institute
Lerner Research Institute
Cleveland Clinic
Cleveland, Ohio

Professor Martin Zenker
Institute of Human Genetics
University Hospital Magdeburg
Magdeburg, Germany

Overgrowth Syndromes

A Clinical Guide

Edited by Giovanni Neri, Luigi Boccuto, and Roger E. Stevenson

Oxford Monographs on Medical Genetics

Reviews and Awards

"this book provides a well-founded and comprehensive overview of the latest scientific findings on overgrowth syndrome. It is a valuable, concise reference work for all those working in clinics and practices in the diagnosis, treatment, and management of patients with overgrowth syndromes and genetic family counseling." - Dorothea Wand, European Journal of Human Genetics

"Part of the Oxford Monographs on Medical Genetics, this concise book is a true specialized clinical guide to overgrowth ... Currently there is not a comparable book that deals only with overgrowth conditions. This is a unique clinical guide that is a must-have book for clinical geneticists." - Luis F Escobar, MD., MS., Doodys