Craniosynostoses Molecular Genetics, Principles of Diagnosis, and Treatment

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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 Basel · Freiburg · Paris · London · New York · Bangalore · Bangkok · Shanghai · Singapore · Tokyo · Sydney Maximilian Muenke Wolfram Kress 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) Institut für Humangenetik Universität Würzburg Biozentrum Am Hubland 97074 Würzburg (Germany) Hartmut Collmann Benjamin D. Solomon Neurochirurgische Klinik und Poliklinik der Universität Würzburg Abteilung Pädiatrische Neurochirurgie Josef-Schneider-Straße 11 97080 Würzburg (Germany) 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 MO567P 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 VII VIII IX 1 8 13 28 45 58 67 89 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.) V 98 107 119 143 152 165 177 184 199 216 232 244 245 VI 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 Contents 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 VII 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 moment. With the completion of the Human Genome Project and with the more recent availability of high-throughput investigative methods, we are now able to couple knowledge from previous accomplishments to newly emerging genomic technologies. We anticipate that through the critical mass of knowledge achieved to date, we can harness new tools of genome analysis in order to better understand craniosynostosis, VIII both as relates to syndromic and nonsyndromic forms, as well as to normal cranial development more generally. This understanding is critical on many levels, but, most importantly perhaps, may be able to inform modalities of medical and surgical management to help improve the lives of affected patients and families. We felt an international team of authors would be able to represent this difficult disorder in all its complexity; these are authors of diverse backgrounds, including clinicians and researchers whose careers are intimately involved in understanding the causes, effects, and treatments of craniosynostosis. Hence, this is a book intended for colleagues from a wide variety of disciplines. We hope this volume may prove useful whether a researcher is devoted to basic science at the bench or standing next to an operating table, and at every point in between. The editors would like to thank all the authors who graciously contributed to this volume and who took the time to share their expertise and explain their most important discoveries to a wide audience. We also would like to extend our deepest gratitude to all the patients and families whom we have met over the course of our careers for their time, their generosity, and their compassionate spirits. Maximilian Muenke, Wolfram Kress, Hartmut Collmann, and Benjamin D. Solomon Bethesda and Würzburg, August 2010 Foreword The Editors – Max Muenke, Ben Solomon, Hartmut Collmann, and Wolfram Kress – have produced an epic-making volume on craniosynostosis that is a tour de force. They have done a remarkable job of selecting and coordinating many highly respected authorities in the field to write 19 chapters covering a wide range of subjects. It is also remarkable that these four editors have, in addition, written or been coauthors of six excellent articles, so that each one of them is magister mundi of craniosynostosis. The rate of discovery in the molecular advances in craniosynostosis is very exciting, but it is equally true for the remarkable advances in craniofacial biology, imaging studies, neurosurgical treatment, craniofacial surgical treatment, and therapeutics and it means clearly that the future is now! However, we all know that advances in these fields will continue to flower tomorrow! Chapter 1 by Ben Solomon, Hartmut Collmann, Wolfram Kress, and Max Muenke provides a historical review of craniosynostosis. The authors take us on a tour of ancient times, later historical developments, the advent of modern classifications, and the evolution of the molecular causes of craniosynostosis, and management. In Chapter 2, Ulrich Müller discusses Boston-type craniosynostosis and its molecular mutation on MSX2 (p.Pro148His). Some basic biological and molecular studies are grouped next. In Chapter 3 Douglas Benson and Lynne Opperman focus on the molecular regulation of calvarial bone growth by Ephrins, FGFs, and TGFβ. In Chapter 4, Jeanette Connerney and Douglas Spicer raise the question of how different signaling transduction pathways integrate with one another to regulate the formation and morphogenesis of craniofacial structures, which is only starting to be understood. In Chapter 5, Andrew Beenken and Moosa Mohammadi address the molecular mechanisms of FGFR activation in craniosynostosis and in some of the skeletal dysplasias, and discuss ligand-independent gain-of-function mutations, and also liganddependent gain-of-function mutations for those few disorders in the linker region between IgII and IgIII. In Chapter 6, Norman Arnheim and Peter Calabrese discuss recurrent germline mutations in FGFR2 and FGFR3, which are paternally derived and age-dependent. The process is driven by a selective advantage of spermatogonial cells, as demonstrated in Apert syndrome. Several chapters deal with various syndromes. Each of these is remarkably extensive and very thorough, analyzing both clinical and molecular aspects of the disorders. I have dealt with Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome in Chapter 7. Ben Solomon and Max Muenke have analyzed the condition named after Max, namely Muenke syndrome in Chapter 8. Wolfram Kress and Hartmut Collmann have Saethre-Chotzen syndrome as their subject in Chapter 9. Ilse Wieland writes about craniofrontonasal syndrome in Chapter 10. In Chapter 11, Manu Raam and Max Muenke tackle a large group of uncommon syndromes IX
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