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Fundamentals
of Craniofacial
Malformations
Vol. 1, Disease and Diagnostics
Ulrich Meyer
Editor
123

Fundamentals of Craniofacial
Malformations

Ulrich Meyer
https://t.me/medicina_free
Editor
Fundamentals
ofCraniofacial
Malformations
Vol. 1, Disease andDiagnostics

Editor
https://t.me/medicina_free
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, specically the rights of translation, reprinting, reuse of
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and transmission or information storage and retrieval, electronic adaptation, computer software,
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The use of general descriptive names, registered names, trademarks, service marks, etc. in this
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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
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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.
JürgenHoffmann,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
vii

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 disgurement 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 difculties 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-specic
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 disgured patients played a decisive role in my gra-
tuity to craniofacially disgured 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)

xii
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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
disgured patients. Therefore, such disgured 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 scientic, clinical
and surgical aspects in the handling and treatment of patients having craniofacial malformations. A special aim of this book was to dene the current
state of craniofacial malformation medicine approaches which are applied in
the various clinical medical specialities.
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