Craniosynostoses

Description

Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units.This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.

Informations

• Publié par: S. Karger AG
• Date de parution: 07 mars 2011
• Nombre de lectures: 0
• EAN13: 9783805595957
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Craniosynostoses Molecular Genetics, Principles of Diagnosis, and Treatment
Monographs in Human Genetics
Vol.19
Series Editor
Michael Schmid     Würzburg
 
Craniosynostoses
Molecular Genetics, Principles of Diagnosis, and Treatment
Volume Editors
Maximilian Muenke     Bethesda, Md
Wolfram Kress     Würzburg
Hartmut Collmann     Würzburg
Benjamin D.Solomon     Bethesda, Md
113 figures, 32 in color, and 17 tables, 2011
_________________________
__________________________
Maximilian Muenke Medical Genetics Branch National Human Genome Research Institute National Institutes of Health 35 Convent Drive, MSC 3717 Building 35, Room 1B-203 Bethesda, MD 20892-3717 (USA)
Wolfram Kress Institut für Humangenetik Universität Würzburg Biozentrum Am Hubland 97074 Würzburg (Germany)
_________________________
__________________________
Hartmut Collmann Neurochirurgische Klinik und Poliklinik der Universität Würzburg Abteilung Pädiatrische Neurochirurgie Josef-Schneider-Straße 11 97080 Würzburg (Germany)
Benjamin D. Solomon Medical Genetics Branch National Human Genome Research Institute National Institutes of Health 35 Convent Drive, Building 35 Bethesda, MD 20892-3717 (USA)
Library of Congress Cataloging-in-Publication Data
Craniosynostoses: molecular genetics, principles of diagnosis, and treatment/Volume Editors, Maximilian Muenke, Bethesda, Md, Wolfram Kress, Würzburg, Hartmut Collmann, Würzburg, Benjamin Solomon, Bethesda, Md.
p.; cm. -- (Monographs in human genetics, ISSN 0077-0876; vol. 19)
Includes bibliographical references and indexes.
ISBN 978-3-8055-9594-0 (hard cover: alk. paper) -- ISBN 978-3-8055-9595-7 (e-ISBN)
1. Craniosynostoses. I. Muenke, Maximilian, editor. II. Kress, Wolfram, editor. III. Collmann, Hartmut, editor. IV. Solomon, Benjamin, editor. V Series: Monographs in human genetics; v. 19.0077-0876
[DNLM: 1. Craniosynostoses-genetics. 2. Craniosynostoses-diagnosis. 3.Craniosynostoses-therapy. W1 M0567P v.19 2011 /WE 705]
RJ482.C73C69 2011
616'.042-dc22
2010051327
Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents®.
Disclaimer. The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
© Copyright 2011 by S. Karger AG, P.O. Box, CH-4009 Basel (Switzerland)
www.karger.com
Printed in Switzerland on acid-free and non-aging paper (ISO 9706) by Reinhardt Druck, Basel
ISSN 0077-0876
ISBN 978-3-8055-9594-0
e-ISBN 978-3-8055-9595-7
 
Contents
Editorial
Schmid, M. (Würzburg)
Preface
Muenke, M. (Bethesda, Md.); Kress, W.; Collmann, H. (Würzburg); Solomon, B.D. (Bethesda, Md.)
Foreword
Cohen Jr., M.M. (Halifax, N.S.)
Chapter 1 Craniosynostosis: A Historical Overview
Solomon, B.D. (Bethesda, Md.); Collmann, H.; Kress, W. (Würzburg); Muenke, M. (Bethesda, Md.)
Chapter 2 Discovery of MSX2 Mutation in Craniosynostosis: A Retrospective View
Müller, U. (Gießen)
Chapter 3 Regulation of Calvarial Bone Growth by Molecules Involved in the Craniosynostoses
Benson, M.D.; Opperman, L.A. (Dallas, Tex.)
Chapter 4 Signal Transduction Pathways and Their Impairment in Syndromic Craniosynostosis
Connerney, J.J. (Boston, Mass.); Spicer, D.B. (Scarborough, Me.)
Chapter 5 The Molecular Bases for FGF Receptor Activation in Craniosynostosis and Dwarfism Syndromes
Beenken, A.; Mohammadi, M. (New York, N.Y.)
Chapter 6 Recurrent Germline Mutations in the FGFR2/3 Genes, High Mutation Frequency, Paternal Skewing and Age-Dependence
Arnheim, N.; Calabrese, P. (Los Angeles, Calif.)
Chapter 7 Apert, Crouzon, and Pfeiffer Syndromes
Cohen Jr., M.M. (Halifax, N.S.)
Chapter 8 Muenke Syndrome
Solomon, B.D.; Muenke, M. (Bethesda, Md.)
Chapter 9 Saethre-Chotzen Syndrome: Clinical and Molecular Genetic Aspects
Kress, W.; Collmann, H. (Würzburg)
Chapter 10 Craniofrontonasal Syndrome: Molecular Genetics, EFNB1 Mutations and the Concept of Cellular Interference
Wieland, I. (Magdeburg)
Chapter 11 Uncommon Craniosynostosis Syndromes: A Review of Thirteen Conditions
Raam, M.S. (Bethesda, Md./Chevy Chase, Md.); Muenke, M. (Bethesda, Md.)
Chapter 12 Metopic Craniosynostosis Syndrome Due to Mutations in GLI3
McDonald-McGinn, D.M.; Feret, H.; Nah, H.-D.; Zackai, E.H. (Philadelphia, Pa.)
Chapter 13 Craniosynostosis and Chromosomal Alterations
Passos-Bueno, M.R.; Fanganiello, R.D.; Jehee, F.S. (São Paulo)
Chapter 14 Nonsyndromic Craniosynostoses
Collmann, H. (Würzburg); Solomon, B.D. (Bethesda, Md.); Schweitzer, T; Kress, W. (Würzburg); Muenke, M. (Bethesda, Md.)
Chapter 15 Molecular Genetic Testing of Patients with Craniosynostosis
Hehr, U. (Regensburg)
Chapter 16 Prenatal Sonographic Diagnosis of Craniosynostosis
Schramm, T. (Munich)
Chapter 17 Clinical Approach to Craniosynostosis
Gripp, K.W. (Wilmington, Del.)
Chapter 18 Imaging Studies and Neurosurgical Treatment
Collmann, H.; Schweitzer, T.; Böhm, H. (Würzburg)
Chapter 19 Maxillofacial Examination and Treatment
Böhm, H.; Schweitzer, T.; Kübler, A. (Würzburg)
Author Index
Subject Index
 
Editorial
It is a great pleasure to introduce volume 19 of the book series Monographs in Human Genetics entitled ‘Craniosynostoses: Molecular Genetics, Principles of Diagnosis and Treatment’. The initial idea for this book was born during a workshop on craniosynostoses held at the Academy of Human Genetics in Würzburg (Germany). Hartmut Collmann and Wolfram Kress brought together many seemingly diverse aspects of craniosynostoses, including clinical approaches, genetics, molecular mechanisms and, most importantly, treatments. As that course progressed, they realized how inspiring this subject was to their colleagues and medical students.
Craniosynostoses provide one of the best examples of today's molecular medicine, connecting simple anatomy and pathology with the structures of molecules that form the relevant signaling pathways. This book truly achieves the aim of Monographs in Human Genetics in dealing with the molecular causes of important hereditary diseases, their diagnosis, and their eventual prevention and clinical treatments. The volume has been organized in an exquisite way by Maximilian Muenke, Wolfram Kress, Hartmut Collmann and Benjamin Solomon. I express my gratitude to them for all the time they invested and the efforts they made in processing and refining all 19 chapters of this exciting book. The internationally renowned authors have contributed excellent manuscripts with astonishing illustrations. Their commitment has made the publication of this volume possible. The constant support of Thomas Karger with this ongoing and timely book series is highly appreciated.
Michael Schmid
Würzburg, November 2010
 
Preface
Craniosynostosis is a challenging and complex condition that has been recognized since the dawn of human history. Our understanding of the clinical manifestations of the disease process has advanced considerably in the last century, with molecular etiologies of many forms of syndromic craniosynostosis emerging in the last two decades. This increased knowledge has in turn enabled researchers and clinicians to probe normal and abnormal sutural biology from the atomic to the population-based level.
Just as important, and in parallel with the recent wave of basic biological understandings of craniosynostosis, advances in clinical diagnosis and treatment have been achieved, which include improvements in prenatal and postnatal imaging and craniofacial surgical techniques. These advances have been important for many reasons, and have allowed functional corrections and achievement of acceptable cosmesis in a broad range of patients.
Thus, given the growth of our knowledge base about craniosynostosis, the editors of this volume feel that the timing of publication comes at a very opportune momen