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Preface
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xiii
The expertise required to generate this book far exceeded that of its editor.
No single expert, to date, is able to have detailed insight into all aspects of this
fast growing and complex eld. The content of the book represents the combined intellect and experience of more than one hundred researchers and clinicians, all of them leading specialists in their eld. Their fundamental work
has not only set the basis for the tremendous advances in this challenging
eld but has also given patients new and fascinating treatment options in
clinical medicine. Finally, I believe that, especially today, it is also important
to understand and reect the current limitations of the eld.
I hope this book will add further stimulus for all researchers and clinicians
who are involved in investigating and treating patients with craniofacial malformations and will contribute to make patient outcomes better. It is important and my wish that this book series will not only give biologists, physicians
and surgeons a deeper understanding of craniofacial malformations but may
also help concerned patients on a long run to live their lives with less
limitations.
Fundamentals of Craniofacial Malformations is about
– changing the face of the society towards disgured persons
– changing the face of all beholders (who interact with such persons)
– changing the face of concerned person through medical and surgical treat-
ments possible
Whereas the rst two points seem to be of utmost importance, the third aspect
represents the main concentration of this book series.
Nordrhein-Westfalen, Germany
UlrichMeyer
Acknowledgements
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I would like to thank all the authors for their timely contribution of an
overview of the various aspects of malformation biology, psychology and
diagnostics. A special acknowledgement is given to the internationally
leading research group of Dr. Chengji Zhou. His extraordinary contribution
to the biology and genetics of orofacial clefts, as the most common
craniofacial malformation, presents the recent knowledge and understanding
of this complex and challenging disease.
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Contents
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Part I General Aspects
1 The Challenge of Craniofacial Malformation Medicine
in Perspective . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Ulrich Meyer
2 Prenatal Diagnosis of Fetal Cranial Anomalies . . . . . . . . . . . . . . 17
James D. Vargo, Ayesha Hasan, and Brian T. Andrews
3 Signal Pathways from the Plasma Membrane to the
Nucleus Regulating Craniofacial Pattern Formation . . . . . . . . . 27
Thomas Meyer
4 The Developmental Interrelation Between the Nervous
System and Craniofacial Complex as Evidenced from
Craniofacial Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Asher Ornoy
5 Morphometrics, Optical 3D Imaging, and Monitoring
of Craniofacial Development and Malformations . . . . . . . . . . . . 53
Helena Sophie Visse, Christoph Runte, Ulrich Meyer,
and Dieter Dirksen
6 Classification of Craniofacial Malformations . . . . . . . . . . . . . . . 67
Ulrich Meyer
Part II Biological Basis of Disease
7 The Biological Basis of Chromosomal and Single
Gene Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
Shankargouda Patil, G. S. Vidya, and Khaled M. Alqahtani
8 Fundamental Mechanisms of Orofacial Clefts . . . . . . . . . . . . . . . 99
Michael A. Garland, Kurt Reynolds, Shuwen Zhang, Bo Sun,
Rebecca De Frates, and Chengji J. Zhou
9 Biological Basis of Craniosynostosis . . . . . . . . . . . . . . . . . . . . . . . 143
Christian Freudlsperger and Michael Engel
10 Biological Basis of Branchial Arch Diseases . . . . . . . . . . . . . . . . . 149
Ulrich Meyer
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11 The Biological Basis of Craniofacially Conjoined Twins. . . . . . . 175
Ulrich Meyer
12 Biological Basis of Craniofacial Soft Tissue Malformations . . . . 187
Kai Wermker
13 Biological Basis of Positional Head Deformations . . . . . . . . . . . . 205
Christian Linz, Felix Kunz, and Tilmann Schweitzer
Part III Psychological Aspects of Disease
14 Aspects of Facial Esthetics and Disfigurement . . . . . . . . . . . . . . . 215
Christoph Runte and Dieter Dirksen
15 Psychosocial Adjustment of Patients with Congenital
Craniofacial Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 239
Thomas Meyer
16 Cognitive State, Behaviour and Self-Assessment of Patients
with Syndromic Craniosynostosis . . . . . . . . . . . . . . . . . . . . . . . . . 249
Lennart Paul Sarbock and Ulrich Meyer
17 Psychological Impact of Facial Disfigurement . . . . . . . . . . . . . . . 265
Jörg Handschel
Contents
Part IV Diagnostic Issues
18 Early Clinical Investigations and Management of
Syndromes Affecting Craniofacial and Dental Structures . . . . . 271
Theodosia Bartzela
19 Genomic Aspects for the Diagnosis of Craniofacial
Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 299
Valentin Kerkfeld, Ulrich Meyer, Arnold Raem,
and Nadja Ehmke
20 Neurosurgical Investigation of Craniofacial
Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 309
Bernd Hoffmann, Ulrich Meyer, and Uta Schick
21 Radiological Investigations of Craniofacial Malformations . . . . 321
Christoph Mönninghoff
22 Maxillofacial Investigation in Craniofacially Malformed
Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 345
Rita Depprich
23 Communication Disorders Secondary to Clefts and Other
Craniofacial Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 361
Ann W. Kummer
24 Feeding and Breathing Aspects in Infants with Craniofacial
Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 377
Valentin Kerkfeld
About the Editor
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UlrichMeyer, DMD, MD, MSc, PhD started to
work in the eld of craniofacial surgery in the
1990s, at the Department of Craniofacial and
Maxillofacial Surgery, University of Münster,
Germany. He completed his specialization in oral
and maxillofacial surgery in 1998 and was
appointed senior physician at the Department of
Oral and Maxillofacial Surgery, University of
Münster in 2000, being promoted to chief senior
physician in 2002. He performed pioneering
research work in craniofacial distraction osteogenesis and tissue engineering. In 2004, he founded
the interdisciplinary open-access journal Head and
Face Medicine. In 2005, he was appointed university professor for life (Professorship for Plastic
Facial and Craniofacial Surgery) and senior consultant and deputy clinic director at the West
German Maxillary Clinic (Westdeutsche
Kieferklinik), Department of Maxillofacial and
Plastic Surgery, Heinrich Heine University,
Düsseldorf. Based on his clinical and research
expertise, he edited in 2008 the biomedical standard work Fundamentals of Tissue Engineering
and Regenerative Medicine. In the course of his
surgical work in Münster and Düsseldorf, Dr.
Meyer developed a broad spectrum of surgical
techniques. More recently, he founded the interdisciplinary Craniofacial Center (Kieferklinik
Münster) in Münster, where his main focus is the
treatment of patients suffering from craniofacial
deformities or diseases, in very close cooperation
with geneticists, biologists, pediatricians, neurosurgeons, ENT specialists, orthodontists, and
others.
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Part I
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General Aspects
The Challenge ofCraniofacial
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Malformation Medicine
inPerspective
UlrichMeyer
It is all about changing faces ….
….. in form and function.
Craniofacial malformations not only affect
patients but also have a major impact on relatives, the medical doctors involved in the treatment of patients, individuals interacting with
such persons, as well as the societal assessment. In order to understand craniofacial malformations in all aspects, it seems to be
important to have an insight into the experience
of concerned patients. Additionally, it is important to review the past, in order to understand
the present and speculate on the future. These
contemplation and perspective on craniofacial
malformations may therefore be based and
elaborated on an impressive essay of a patient
with Crouzon syndrome (Ariel Henley,
NewYork Times; 3. Nov. 2016):
I have never seen someone who looked like me on
a mainstream television show. I have never seen
someone who looked like me, playing anything but
a villain in movies, or in an ad or on a billboard. I
am invisible. That is, until I walk down the street.
That is, until strangers stare just a little too long
and rudely whisper, “look at her eyes.”
U. Meyer (*)
Craniofacial Center, Kieferklinik Münster,
Münster, Germany
University of Düsseldorf, Westdeutsche Kieferklinik,
Moorenstrasse, Düsseldorf, Germany
e-mail: info@kieferklinik-muenster.de
1
1.1 Craniofacial Malformations
inArts andMedia
Facial disgurement is seldom seen in arts and
movies. Whereas people with facial disgurement play some special roles in modern lms,
disgured persons are even nowadays seldom
displayed in arts. There has been scant representation of facial disgurement in portraiture
through the ages. Reasons include the frequent
emphasis in art on beauty, symmetry and proportion, the need for the artist to sell his or her
work, and the widespread tendency in commissioned work for the artist to atter the sitter to
indicate wealth, status, and power. Sitters with
unusual faces often required artists to conceal or
disguise any facial differences. Religion played
an additional role in the portrayal of people with
disgurements. Some societies believed that
evil and deviation were indelibly marked upon
the face, a stereotype that continues sometimes
today. Modern medicine can provide retrospective diagnosis of disguring ailments, requiring
re- interpretation of portraits depicting those formerly labelled “freaks” (Figs.1.1, 1.2, and 1.3).
Later on, as science and medicine progressed, a multitude of stories, paintings, and
lms dealt with the situation of malformed
humans. Most movies are inuenced by the
social, cultural, and scientic background of
individual persons at their time and reect to a
large extent the societal view on disgured per-
© Springer Nature Switzerland AG 2021
U. Meyer (ed.), Fundamentals of Craniofacial Malformations,
https://doi.org/10.1007/978-3-030-46024-2_1
3
4
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Fig. 1.1 William Roos (1808–1878). Portray of a blind
person. By William Roos - National Museum Wales,
Public Domain, https://commons.wikimedia.org/w/index.
php?curid=11409877
U. Meyer
Fig. 1.2 Quinten Massys (1466–1530). Portray of a person
appearance, indicative for Paget’s disease. https://commons.
wikimedia.org/wiki/File:Quentin_Matsys_-_A_Grotesque_
old_woman.jpg#/media/Datei:Quentin_Matsys_-_A_
Grotesque_old_woman.jpg
Fig. 1.3 Portray of Emperor Karl V of Habsburg (family-
based Habsburger long chin syndrome (mandibular prognathism), inbred by the common situation of marriages
between relatives). Titian, Charles V, Holy Roman
Emperor, Alte Pinakothek, München, KatalogNr. 632
sons. Some well-known examples in contemporary literature and movies present the theme of
disgured persons. The gure of Quasimodo
(Fig. 1.4) in the novel from Victor Hugo [1]
(1482) as well as Frankenstein [2] (written by
Mary Shelley in 1818 (Fig. 1.5)) mirrors the
desire to reect on the situation of disgured
persons. In the twentieth century, medicine and
art merged in the gure of Henry Tonks [3]. His
drawings and pastels of soldiers with severe
facial injuries in the First World War were concealed from public view as they were deemed
bad for morale. Until very recently they had
been quietly excluded from the history of that
conict but were displayed in an exhibition at
the Royal College of Surgeons in 2014. In con-
1 The Challenge ofCraniofacial Malformation Medicine inPerspective
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Fig. 1.6 Rock group Maniac Street Preachers with the
cover of their album, displaying a person with a facial port
wine stain. The Quietus, John Doran, 30th April 2009
5
Fig. 1.4 Quasimodo (painting by Antoine Wiertz). Von
Antoine Joseph Wiertz - Quasimodo.jpg: photo by
user:Szilas in the Wiertz Museum, Gemeinfrei, https://
commons.wikimedia.org/w/index.php?curid=17816537
temporary arts, facial abstraction, destruction,
and reassembly play a more complex role in the
contemplation of facial beauty and
disgurement.
Even nowadays is the depiction of a disgured face in the public a complex and controversial issue. In 2009, artist Jenny Saville portrayed
a child with a facial port wine stain on a Manic
Street Preachers album cover (Fig.1.6). Fearful
of negative public reaction, four major supermarket chains concealed the “offending” image.
Since then, a debate about art, aesthetics, and
disgurement and three portraits of people living with facial difference were commissioned.
One of these, Alastair Adams’ powerful portrait
of Marc Crank, is held by Girton College,
University of Cambridge (Fig.
1.7) which is an
offensive way to bring disgurement to the
public:
As a child, I was often asked why my eyes were
shaped the way they were, so crooked and far
apart.
“I don’t know,” I would shrug. “I just came that
way!” Sometimes this question bothered me,
because I didn’t understand why everyone felt the
need to ask it. Most of the time, I just didn’t know
how to respond.
Fig. 1.5 Frankenstein. Von Theodor von Holst - https://
archive.org/details/ghostseer01schiuoft, Gemeinfrei, https://
commons.wikimedia.org/w/index.php?curid=1490898
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I was born with a craniofacial disease—Crouzon
syndrome, a condition where the bones in the head
do not grow. A condition that required too many
surgeries and procedures to count, so I grew accustomed to being cut open, pulled apart, and put back
together. Though I quickly learned that once something is taken apart, it’s never quite the same.”
To make matters more challenging, I never had
anyone who had been through the same experiences to turn to for advice and support. I would
search the internet for others like me, trying to nd
personal stories and tips and advice for how to get
through it, but was never able to nd anything. I
felt alone. To get through it, I told myself I would
grow up to be the stereotypical denition of beautiful. With each surgery I had, I assured myself I was
getting one step closer to being able to walk down
the street in peace. People would no longer stare at
me in confusion and disgust, wondering why I
looked the way I did. Instead, they would admire
my beauty. I would nally be happy. Nobody told
me happiness was an inside job.
U. Meyer
Fig. 1.7 Alastair Christian Adams. Portray of a person
with right-sided facial disgurement. Alastair Christian
Adams, https://wikioo.org/museumbycity.php?id=Girton
+College+%28Cambridge%2C+United+Kingdom%29
1.2 Craniofacial Malformation
andSocietal Assessment
Despite indications that the possession of an
aesthetically unattractive appearance may
impair the social functioning of many, there has
been little recognition from either society or
psychologists of the problems encountered by
those whose deviations from society’s norms
are primarily in terms of appearance, and not
necessarily associated with a loss of body functioning. Different authors stated that of all the
concerns within the eld of physical disability
and rehabilitation, for her the greatest was the
large number of people with facial deviations
who seem to be classied as “marginal” or “forgotten” people [4]. Yet the profound social signicance of the face, taken together with
society’s prejudices toward those who have an
atypical appearance, is indicative that an unattractive facial appearance could be a severe
social handicap.
1.3 The Concept ofBeauty
The surgical creation of beauty faces by men is a
matter of myth and dream throughout the history
of medicine. The nature of beauty is one of the
most enduring and controversial themes in
Western philosophy and is—with the nature of
art—one of the two fundamental issues in philosophical aesthetics.
Beauty has traditionally been counted among
the ultimate values, with goodness, truth, and
justice (Fig. 1.8). It is a primary theme among
ancient Greek, Hellenistic, and medieval philosophers and was central to eighteenth- and
nineteenth- century thought, as represented in
treatments by a lot of philosophers as Shaftesbury,
Hume, Kant, Schiller, Hegel, Schopenhauer, and
Santayana. Perhaps the most familiar basic issue
in the theory of beauty is whether beauty is subjective—located “in the eye of the beholder”—
or whether it is an objective feature of beautiful
things. A pure version of either of these positions
seems implausible, and many attempts have been
made to split the difference or incorporate
insights of both subjectivist and objectivist
accounts. Ancient and medieval accounts for the
most part located beauty outside of anyone’s
particular experiences. Leonardo da Vinci was
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