Craniofacial Sutures
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1 Craniofacial Sutures
2 Frontiers of Oral Biology Vol. 12 Series Editor Paul Sharpe, London
3 Craniofacial Sutures Development, Disease and Treatment Volume Editor David P. Rice, London/Helsinki 44 figures, 13 in color, and 10 tables, 2008 Basel Freiburg Paris London New York Bangalore Bangkok Singapore Tokyo Sydney
4 Frontiers of Oral Biology David P. Rice Senior Lecturer, Guy s Hospital King s College, London SE1 9RT (UK) and Professor of Orthodontics Institute of Dentistry and Helsinki University Central Hospital Box 41, University of Helsinki FIN Helsinki (Finland) Library of Congress Cataloging-in-Publication Data Craniofacial sutures : development, disease, and treatment / volume editor, David P. Rice. p. ; cm. (Frontiers of oral biology, ISSN : v. 12) Includes bibliographical references and indexes. ISBN (hard cover : alk. paper) 1. Cranial sutures. 2. Craniosynostoses. I. Rice, David P. II. Series. [DNLM: 1. Cranial Sutures growth & development. 2. Craniosynostoses. W1 FR946GP v / WE 705 C ] QM105.C dc Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents and Index Medicus. Disclaimer. The statements, options 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 2008 by S. Karger AG, P.O. Box, CH 4009 Basel (Switzerland) Printed in Switzerland on acid-free and non-aging paper (ISO 9706) by Reinhardt Druck, Basel ISSN ISBN
5 Contents VII Foreword Cohen, M.M., Jr. (Halifax, N.S.) XI Preface Rice, D.P. (London/Helsinki) 1 Developmental Anatomy of Craniofacial Sutures Rice, D.P. (London/Helsinki) 22 Locate, Condense, Differentiate, Grow and Confront: Developmental Mechanisms Controlling Intramembranous Bone and Suture Formation and Function Rice, D.P.; Rice, R. (London/Helsinki) 41 Mechanical Influences on Suture Development and Patency Herring, S.W. (Seattle, Wash.) 57 Suture Neontology and Paleontology: The Bases for Where, When and How Boundaries between Bones Have Been Established and Have Evolved Depew, M.J.; Compagnucci, C.; Griffin, J. (London) 79 Single Suture Craniosynostosis: Diagnosis and Imaging Hukki, J.; Saarinen, P.; Kangasniemi, M. (Helsinki) 91 Clinical Features of Syndromic Craniosynostosis Rice, D.P. (London/Helsinki) V
6 107 Genetics of Craniosynostosis: Genes, Syndromes, Mutations and Genotype-Phenotype Correlations Passos-Bueno, M.R.; Sertié, A.L.; Jehee, F.S.; Fanganiello, R.; Yeh, E. (São Paulo) 144 Roles of FGFR2 and Twist in Human Craniosynostosis: Insights from Genetic Mutations in Cranial Osteoblasts Marie, P.J.; Kaabeche, K.; Guenou, H. (Paris) 160 Fibroblast Growth Factor Signaling in Cranial Suture Development and Pathogenesis Hajihosseini, M.K. (Norwich) 178 Tgf- Regulation of Suture Morphogenesis and Growth Rawlins, J.T.; Opperman, L.A. (Dallas, Tex.) 197 The Bmp Pathway in Skull Vault Development Maxson, R.; Ishii, M. (Los Angeles, Calif.) 209 Current Treatment of Craniosynostosis and Future Therapeutic Directions Wan, D.C. (Stanford, Calif./San Francisco, Calif.); Kwan, M.D. (Stanford, Calif./Philadelphia, Pa.); Lorenz, H.P.; Longaker, M.T. (Stanford, Calif.) 231 Author Index 232 Subject Index Contents VI
7 Foreword This epic-making book Craniofacial Sutures edited by David Rice together with his many research articles make him magister mundi of sutural biology. Elsewhere [1], I have discussed suture systems of the skull and their respective anatomic boundaries (table 1). Pruzansky [2] conceived of the skull as a community of bones separated by articulations, whereas Moffett [unpubl. manuscript] thought of the skull as a community of articulations separated by bones. Several different types of articulations were recognized by Moffett (table 2). The two views of Pruzansky and Moffett are actually complementary and simply represent different contexts in which to view development of the skull. This volume Craniofacial Sutures elegantly demonstrates both of these contexts. The book is divided into 12 sections. David Rice himself is responsible for three of these: (a) Developmental Anatomy of Craniofacial Sutures; (b) Locate, Condense, Differentiate, Grow and Confront: Developmental Mechanisms Controlling Intramembranous Bone and Suture Formation and Function, and (c) Clinical Features of Syndromic Craniosynostosis. He has invited a number of world class biologists, geneticists, and clinicians to join him by writing intriguing chapters on a variety of different sutural topics. The molecular biology of craniosynostosis is advancing at a very rapid pace since my last reviews of the subject [3, 4]. I highly recommend this magnificent book to evolutionary biologists, craniofacial biologists, anthropologists, geneticists, craniofacial surgeons, plastic surgeons, oral and maxillofacial surgeons, orthodontists, and others with an interest in craniofacial and sutural biology. VII
8 Table 1. Suture systems Sutures Coronal Lambdoid Sagittal Craniofacial Circummaxillary Boundaries Separates anterior cranial segments from middle cranial segment Separates middle cranial segment from occipital bone Divides skull into right and left halves Separates upper facial skeleton from anterior cranial region Separates maxilla from adjacent facial bones Table 2. Craniofacial articulations Type of Example Physiological Mechanical Remodeling articulation function function response Synovial Temporomandibular Jaw movement Resists compression Limited, avascular joint and shear to some extent Cartilaginous Cranial base Active growth Resists Limited, synchondroses compression avascular Fibrous Cranial sutures Allows passage through Respond to Great, vascularized birth canal; passive tension growth secondary to brain enlargement Facial sutures Mastication Sutures remain patent; Great, vascularized shock absorbers for forces of mastication Periodontal fibers Eruption of teeth; Responds to tension, Great, vascularized anchoring support compression and shear of teeth Dental Occlusal and Mastication Subject to None, acellular interproximal and speech compression articulations and shear Foreword VIII
9 David Rice is to be congratulated for spearheading this splendid volume. M. Michael Cohen Jr. Professor Emeritus of Pediatrics, Dalhousie University, Halifax, N.S., Canada References 1 Cohen MM Jr: Anatomic, genetic, nosologic, diagnostic, and psychosocial considerations; in Cohen MM, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management. New York, Oxford University Press, 2000, chap 11, pp Pruzansky S: Clinical investigation of the experiments of nature. ASHA Rep 1973;8: Cohen MM Jr: FGFs/FGFRs and associated disorders; in Epstein CJ, Erickson RP, Wynshaw- Boris A (eds): Inborn Errors of Development. New York, Oxford University Press, 2004, chap 33, pp Cohen MM Jr: Craniofacial anomalies; in Gilbert-Barness E (ed): Potter s Pathology of the Fetus, Infant, and Child. Philadelphia, Mosby, 2007, vol 1, chap 20, pp Foreword IX
10
11 Preface Craniofacial sutures are important sites of facial and calvarial bone growth. Sutures therefore contribute to differences in the shape, size and character of our face and skull and as a result in the way in which we perceive each other. Suture development, which occurs mainly during embryogenesis, has to be carefully synchronized with the development of the neighboring organs. These organs are primarily the brain, eyes, nose and mouth. If sutures close prematurely, a condition called craniosynostosis, further bone growth is not possible at the site of fusion. This results in uncoordinated compensatory craniofacial development and consequently produces deformity of the calvaria, orbits or face and may also result in dental malocclusion. This book brings together leading basic science researchers and clinicians to produce a review of craniofacial suture development and the clinical conditions that can result from abnormal suture development. The book is broadly divided into five sections. First, there is a developmental biology section in which the developmental anatomy of both calvarial and facial sutures is described, and the key molecular mechanisms controlling intramembranous bone and suture formation are detailed. In addition, the factors controlling suture patency are discussed. Following this there is a chapter on how, from an evolutionary aspect, sutures form and why they form at specific locations and at specific times. The third section gives a synopsis of the major clinical conditions affecting craniofacial sutures, a comprehensive overview of human genetic mutations causing craniosynostosis, and evidence of genotype-phenotype correlations. In the fourth section the major molecular pathways involved in normal and abnormal suture development are described. It is intended that this section combined with the clinical sections provides an insight into the molecular etiology of sutural disorders. Finally, there is a review of current treatment philosophies and a look to the future. David P. Rice, Helsinki September 2007 XI
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