Overgrowth Syndromes
A Clinical Guide
Published on 4. April 2019
Book
Hardback
288 pages
978-0-19-094489-6 (ISBN)
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.
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.
Reviews / Votes
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 *More details
Series
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Dimensions
Height: 240 mm
Width: 161 mm
Thickness: 20 mm
Weight
596 gr
ISBN-13
978-0-19-094489-6 (9780190944896)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions
E-Book
02/2019
1st Edition
OUP eBook
€69.99
Available for download
E-Book
02/2019
1st Edition
OUP eBook
€69.99
Available for download
Persons
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.
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.
Author
Senior Genetics Scholar, JC Self Research Institute of Human GeneticsSenior Genetics Scholar, JC Self Research Institute of Human Genetics, Greenwood Genetic Center
Research Scientist, JC Self Research Institute of Human GeneticsResearch Scientist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center
Senior Clinical Geneticist, JC Self Research Institute of Human GeneticsSenior Clinical Geneticist, JC Self Research Institute of Human Genetics, Greenwood Genetic Center
Content
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
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