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Fundamentals of Craniofacial Malformations
Vol. 1, Disease and Diagnostics
Ulrich Meyer
Editor
123
Ulrich Meyer
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Editor
Fundamentals ofCraniofacial Malformations
Vol. 1, Disease andDiagnostics
Editor
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Ulrich Meyer Craniofacial Center Kieferklinik Münster Münster, Germany
ISBN 978-3-030-46023-5 ISBN 978-3-030-46024-2 (eBook)
https://doi.org/10.1007/978-3-030-46024-2
© Springer Nature Switzerland AG 2021 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microlms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specic statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional afliations.
This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
Dedicated to Ashley and Janine
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Foreword
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Surgery is an art; it is not pure science. And there is no other specialty where this is more evident than in craniofacial surgery. However even an artist would need at least a basic knowledge and a portfolio of techniques for his work.
With these textbooks a structured overview is given how craniofacial mal­formations develop, how they should be diagnosed, and which differential indications and treatment plans need to be taken into account before taking the patient to the operating theater.
I am really pleased to have this opportunity to pen some words at the beginning of these interesting books, which are comprehensive, well written, and illustrated by internationally recognized authors in their eld.
The textbooks will serve as essential and valuable references for higher trainees and practicing clinicians in cranio-maxillofacial surgery, orthodon­tics, plastic and reconstructive surgery, and allied specialties.
On behalf of the patients who rely on our expertise, I wish this work as much success as possible.
JürgenHoffmann,MD,DMD,FEBOMFS
Professor and Chairman
Department of Oral and Maxillofacial Surgery
National Cancer Center
President German Association
of Oral and Maxillofacial Surgery
Member of the Board German
Association of Surgery
Heidelberg, Germany
University Hospital Heidelberg
Im Neuenheimer Feld
Heidelberg, Germany
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Preface
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Craniofacial malformations are severe diseases with a high structural and functional complexity. Patients, parents and relatives suffer not only from the disease and the medical treatments but also through the psychological and social impact of the disease. They search help in the medical society. Medical doctors from different disciplines, on the other hand, try hard to help such patients. Patients with severe craniofacial malformations like syndromic cra­niosynostosis or severe facial clefts have even nowadays a high burden of multiple surgical and non-surgical treatments, an altered psychological devel­opment and impaired social acceptance. “Beauty is skin deep, ugly to the bone” is a phrase that describes the effect of the anatomical situation of cra­niofacially malformed patients on the beholder. Therefore, engagement with craniofacial malformations needs a widespread approach.
Patients are in need to have improved conditions concerning the medical treatment options, and a better embedding in the society. Craniofacial malfor­mation and facial disgurement attract an increased attention nowadays not only in society but also in science. The fast growth of the craniofacial medi­cine discipline is mirrored by the high number of excellent research and clini­cal papers covering all aspects of these elds. Additionally, numerous high quality books are available describing in detail different aspects of the various disease entities. Despite the fact that such literature is already available, I decided, based on my experience in bone and soft tissue research and my focus and main clinical work in malformation surgery, to edit a comprehen­sive book on craniofacial malformations. There were three particular reasons for this decision:
1. First, during my experimental and clinical work on bone and cartilage
healing, distraction osteogenesis, tissue engineering and stem cell use in
Münster and Düsseldorf, which we have done for more than two decades
in our interdisciplinary biomineralisation and tissue engineering research
group with Hans-Peter Wiesmann, Jörg Handschel and Thomas Meyer
and the transformation of our results in clinical practice, we observed that
many specialists of the different elds, involved in approaching this area,
had difculties in overviewing the complexity of the eld. At that time we
edited in 2008 the book Fundamentals of Tissue Engineering and
Regenerative Medicine in order to make a timely, comprehensive and
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interdisciplinary publication of all major aspects of this eld, which has the same complexity as craniofacial medicine. The success of this book format stimulated myself to edit now a comprehensive book on the com­plex eld of craniofacial malformations.
2. Second, during the last decade an improvement and, at the same time, interdentation were seen between the various theoretical and medical sub­specialities (biophysicists, material scientists, bioengineers, computer specialists, paediatricians, plastic surgeons, maxillofacial surgeons, neu­rosurgeons, dentists, speech therapists and all others). As the head is the most complex structure of the body, craniofacial medicine brings together basic researchers, mainly with a biological, biophysical or material sci­ence-oriented background, with the broad range of clinically oriented phy­sicians and surgeons; I found that they differed in the “language” used. I therefore want to approach a level of communication and understanding between the disciplines by an overlap strategy of knowledge transfer in this book series. To reach this aim of a more interdisciplinary view on craniofacial medicine, I founded the open-access journal Head and Face
Medicine to bring researchers and clinicians closer together. Head and Face Medicine was launched in 2005 as a multidisciplinary open-access
journal that publishes basic and clinical research concerning all aspects of cranial, facial and oral conditions. The journal covered since the beginning all aspects of cranial, facial and oral diseases and their management. Designed as a multidisciplinary journal for clinicians and researchers involved in the diagnostic and therapeutic aspects of diseases which affect the human head and face, the journal developed to be wide-ranging, cover­ing the development, aetiology, epidemiology and therapy of head and face diseases to the basic science that underlies these diseases. The aim of this book is also to contribute to an improved communication and under­standing between various specialists in craniofacial malformation medicine.
3. Third, recent developments in basic and clinical approaches have shown to be promising to improve patient outcomes profoundly. As “Beauty is skin deep, ugly to the bone” describes the underlying situation of concerned patients, therapies structuring bone to the normal anatomy are of special relevance. Bone sculpturing has seen the most impressive advances in recent times through three newly developed treatment options: (a) the application of distraction osteogenesis in the craniofacial skeleton (intro­duced in craniofacial surgery by Joseph McCarthy), (b) the virtual plan­ning and execution of orthognathic surgery procedures by patient-specic implants (PSI) and (c) the individual CAD/CAM-based planning, manu­facturing and positioning of bone substitute materials on the skull. Whereas distraction osteogenesis has reached a level of clinical routine, individual bone sculpturing is in the beginning. My own experience with these thera­peutic options and the possibility of the combined use of such strategies in one operation have shown to alter craniofacial malformation treatment profoundly.
Preface
Preface
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xi
I decided to present the demanding and complex aspects of craniofacial malformations by a structural homogeneity of Fundamentals of Craniofacial Malformations through an interdentation of chapters, written by specialists in their eld. I have conceptualised the three book series according to a method­ological approach (book one describes the genetics and biology of craniofa­cial malformations, their psychological and social impact as well as the diagnostic procedures; book two presents the complex treatment principles; book three is a surgical atlas, describing all relevant operative procedures in craniofacial malformation surgery). The various entities of craniofacial mal­formations (gene and chromosome alterations, craniosynostoses, clefts, bran­chial arch diseases, postural head deformations, dysgnathias, soft tissue malformations) are the main formal and structural guide within the book series. The series is therefore divided into the different aspects of these elds on a level that provides extended information for the specialists, but also is a usable access for non-specialists. The written description of this book is added by numerous tables, schematic illustrations and photos in order to give a better understanding of the information provided in this book. In order to be able to edit such a work I would like to thank my colleagues at the Cranio­Maxillofacial University Clinic of Münster, at the University Clinic for Maxillofacial and Plastic Surgery in Düsseldorf (Westdeutsche Kieferklinik), the Center for Jaw-, Face-, and Skull Malformations (Kieferklinik Münster) in Münster as well as the colleagues of the craniofacial team (Neurosurgery: Prof. Dr. U.Schick, Dr. B.Hoffmann; Children’s Hospital: Dr. G.Hülskamp, PD Dr. O.Debus; Anesthesiology and Intensive Care Unit: Dr. N.Mertens) at the Clemenshospital Münster for their superior quality of work, advice and enthusiasm in research and clinical work on this issue. Their stimulating envi­ronment and a multitude of close collaborations and friendships were the basis of this book.
My time at the university clinic in Münster with the internationally recog­nised expertise of Professor Dr. Dr. Dr. hc. Ulrich Joos in surgical concepts of craniofacially malformed patients (especially cleft and craniosynostoses patients) and my experience of superior bone research (BMP) and microvas­cular surgery by Professor Dr. Dr. Norbert Kübler during my clinical work at the Westdeutsche Kieferklinik were the fundament to start this book project.
Of personal and special relevance is to give credit to the Westdeutsche
Kieferklink (Fig.1). The historically based experience of the Westdeutsche Kieferklinik with facially disgured patients played a decisive role in my gra-
tuity to craniofacially disgured children. The Westdeutsche Kieferklinik had a special role in two aspects: it was the rst clinic in inauguration of the German-based development of the double degree of dentistry and medicine (Professor Lindemann, PhD in 1926; rst full Professorship in Germany in
1935) as a prerequisite for the specialisation for Craniofacial Surgery (Mund-; Kiefer- und plastische Gesichtschirurgie). Second, it was the serving clinic for all facially injured soldiers at the west front during the First and Second World War. At the peak point, the clinic maintained at the end of the First World War 632 beds (spread over different hospital locations in Düsseldorf)
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Preface
Fig. 1 The Westdeutsche Kieferklinik in Düsseldorf (bottom) was the germ cell for the German-based double degree
development in craniofacial and facial plastic surgery (Mund-, Kiefer- und Plastische Gesichtschirurgie), developed from the necessity to interdisciplinarily treat the high number of facially injured patients (top right and left) of the west front during and after the First and Second World War. Source: Ulrich Meyer/Westdeutsche Kieferklinik
and was perhaps the largest institution in this eld worldwide, ever; surpass­ing all other hospitals in the clinical challenge and expertise to restore facially disgured patients. Therefore, such disgured patients were and still are prominent themes and social issues in Düsseldorf.
I would like to thank the patients who have participated in the develop­ment of craniofacial surgery by carrying such treatments. The co-operation with the German parents initiative Apert group and their experience and rec­ommendations improved the view on the situation of craniofacially diseased persons. As the recent detailed knowledge in craniofacial medicine far exceeds the content of a book, I have tried to nd for the reader a compromise between a comprehensive and detailed description of all aspects of this eld.
Fundamentals of Craniofacial Malformations is intended not only as a text for students but especially as a reference for research and clinical work. The content of the book covers therefore the most recent scientic, clinical and surgical aspects in the handling and treatment of patients having cranio­facial malformations. A special aim of this book was to dene the current state of craniofacial malformation medicine approaches which are applied in the various clinical medical specialities.