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Fundamentals
ofCraniofacial
Malformations
Vol. 2, Treatment Principles
UlrichMeyer
Editor
123

Fundamentals of Craniofacial
Malformations

Ulrich Meyer
https://t.me/medicina_free
Editor
Fundamentals
of Craniofacial
Malformations
Vol. 2, Treatment Principles

Editor
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Ulrich Meyer
Center for Jaw-, Face- and Skull Surgery
Münster, Germany
ISBN 978-3-031-28068-9 ISBN 978-3-031-28069-6 (eBook)
https://doi.org/10.1007/978-3-031-28069-6
© Springer Nature Switzerland AG 2023
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
illustrations, recitation, broadcasting, reproduction on microlms 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 specic 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 afliations.
This Springer imprint is published by the registered company Springer Nature Switzerland AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
Paper in this product is recyclable.

Dedicated to the parents
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Foreword
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Dear colleagues,
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’m 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.
Department of Oral and Maxillofacial Surgery,
National Cancer Center
University Hospital Heidelberg
Heidelberg, Germany
German Association of Oral and Maxillofacial Surgery
Heidelberg, Germany
Board German Association of Surgery
Heidelberg, Germany
JürgenHoffmann
vii

Preface
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This book as the second book of the series Fundamentals of Craniofacial
Malformations focuses on treatment and planning options for craniofacially
malformed patients. In the last several years, the arena of craniofacial malformation surgery has expanded in planning and execution possibilities, and the
treatment of these deformities has become more sophisticated. In view of
these many changes, based on the embryology, genetics, etiology, pathogenesis, and imaging (described in detail in Book I), managing options of patients
seem to have improved. It is advisable to assess current treatment concepts in
the context of the past, enabling to speculate on the future. Therefore, the history of treatment as well as classication systems of diseases are included for
the main disease entities. The various entities of craniofacial malformations
(craniosynostoses, orofacial clefts, branchial arch diseases, postural head
deformations, dysgnathia, soft tissue malformations) are again the main formal and structural guide within this book series.
The content of the book represents the combined intellect and experience
of the leading specialists in their eld. This does not mean that the presented
aspects in this book are complete or other approaches do not have the relevant
justication. I believe that, especially in search for the best treatment option
for our patients, it is also important to understand, reect, and pronounce the
current limitations of this eld.
One of the major problems in providing universally valid treatment principles is that a high number of the craniofacial malformations are rare.
Diseases occurring with an incidence of less than 1–10 cases per 10,000 individuals are considered as rare. Currently, between 5000 and 8000 rare diseases are known; every year, about 250 rare diseases are newly described.
Many of those pathologies are present in the skull, face, and neck area. During
the last years, the perception of and the knowledge about rare diseases have
increased also because publicly available databases have been created and
self-help groups have been established, which foster the autonomy of affected
people.
When treatment principles are under consideration, two aspects are of special relevance: (1) treatment should be standardized to apply generally
accepted therapies and, on the other hand, (2) tailored, patient-specic treatment solutions are desirable. Both aims are difcult to achieve at the same
time in patients suffering from rare diseases, like most craniofacial malformations. Evidence-based treatment protocols are hardly found in craniofacial
malformation therapies. This is even more relevant when details of surgical
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techniques are applied. To overcome the competing problem of generally
applicable versus individualized treatment concepts in rare diseases, various
modern inventions may be helpful.
Various modern trends (precision/personal medicine, articial intelligence, computer-aided surgery, big data analysis) are promising to improve
treatment concepts in the near future.
Of relevance in the specialty of craniofacial surgery is the approach of
precision medicine or personal medicine. The term “precision medicine” has
become very popular in recent years, fueled by scientic as well as political
perspectives. It has superseded the term “personalized medicine,” which was
dened synonymously, but then dismissed with the argument that physicians
have always treated patients on a personalized level. Indeed, the personal
approach that is an inherent part of the doctor–patient relationship is a central
aspect of precision medicine but is not an invention. However, new biomedical information might add substantial information beyond signs and symptoms that were previously observable, and the term precision medicine
implies the novelty of this concept, which is the incorporation of a wide array
of individual data, including genetic, environmental, clinical, and phenotypic
marker information. Precision medicine is rooted in the belief that since individuals possess nuanced and unique characteristics at the genetic, physiological, clinical, phenotypical, environmental exposure, and behavioral levels,
they may need to have interventions provided to them for diseases they possess that are tailored to these nuanced and unique characteristics. This belief
has been veried to some degree through the application of emerging diagnostic (DNA sequencing, proteomics, imaging protocols) and therapeutic
technologies (computer-assisted surgery), which have revealed great interindividual variation in planning and execution processes.
Articial intelligence (AI) is a branch of computer science capable of analyzing complex medical data. Their potential to exploit meaningful relationship within a dataset can be used in the diagnosis, treatment, and predicting
of outcome also in craniofacial surgery. The range to apply AI spans from
image analysis and processing over genotype/phenotype correlation determination to treatment analysis. Articial intelligence (AI) algorithms, particularly deep learning, have demonstrated remarkable progress in image
recognition and processing tasks. Methods ranging from convolutional neural
networks to variational autoencoders have found myriad applications in the
medical analysis eld, propelling it forward at a rapid pace. It was only
recently that the technical progress in the eld of biomedicine has allowed
individual targeted plannings. Hereby, the application of articial intelligence
allows processing the large volume of collected genetic and phenotype data
in a more and more efcient way. Surgeons making complex, high-stakes
decisions when offering an operation may be supported by AI-based algorithms, for analyzing modiable risk factors, managing complications, optimizing resource use, and conducting an operation.
Treatment principles are the link between the knowledge of the patient’s
disease situation, presented in Book I, and the execution of therapy, presented
in Book III.Planning is the direct step prior to surgery. Planning is based on
the individual patient evaluation, incorporating the various biological
Preface

Preface
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xi
approaches (bone and soft tissue engineering, distraction osteogenesis). For
the execution of surgery, modern image-based computer-aided reconstruction
is of high relevance. From a didactic point of view, we therefore subdivide the
book into disease-specic and patient-specic aspects, give insight into biological measures, and describe in detail modern computer-aided planning and
execution principles.
I hope that this book will add further stimulus for all clinicians who are
involved in treating patients with craniofacial malformations. Not mentioned
before, but of utter importance in achieving desired results for patients with
craniofacial malformations, is, of course, a long-standing and profound clinical and surgical experience in treating patients with such diseases. They
deserve it.
Münster, Germany UlrichMeyer

Acknowledgments
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I would like to thank all authors for the timely contribution of an overview of
the various aspects of craniofacial malformation treatment. This book would
not have been possible without the hard work and efforts of the many. The
willingness of the physicians and surgeons from different disciplines to interdisciplinary work together is one key for advancing the eld of craniofacial
surgery. The content of the book reects the outstanding expertise of all
authors working in the different elds of craniofacial malformations, offering
patients new and fascinating treatment options in clinical medicine. Last but
not least, I would like to thank especially the patients who participated in the
development of craniofacial surgery by carrying out such treatments.
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