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U. Meyer
Fig. 11.2 CBCT images of different kinds of asymmetric: top: asymmetric alignment (normal dysgnathia); bottom:
object asymmetry of maxilla and mandible (hemifacial hypertrophy)
Limitations ofGateno’s
Classication System
orofacial clefts, and craniofacial scoliosis, so
they are not easily included in such a classication. (3) The embryologic development of the
Gateno’s precise geometric classication has a
high precision to dene the geometric alterations of teeth and jaws in most dysgnathic
patients, but it has limitations in three aspects,
especially relevant in patients suffering from a
craniofacial deformity: (1) to include an unaltered anatomy of the skull base as one reference
system, (2) to refer to a dened symmetry plane
of the patient’s skull as a second plane, and (3)
the use of the maxilla as one anatomical unit. (1)
As the classication of geometric deviations
from normal is based on a reference system
where the skull base is normal (in position, size,
and angulation), patients with craniosynostosis
and branchial arch diseases fail to be included in
the classication. (2) Facial symmetry is not
given in patients with branchial arch diseases,
maxilla distinguishes three parts, two lateral
sided parts and one medial part. Patients with
bilateral clefts cannot be properly described
through such a classication.
The question arises as to how patients with
craniofacial malformations can be properly
classied. Craniofacial malformations can be
grouped according to their underlying pathophysiology. The display features of malformation are according to the affected bony and soft
tissue structures. One option is to refer and compare the dysgnathic situation towards a threedimensional anatomy of normal (norm) patients.
Table 11.3 indicates the geometric alteration
towards the normal anatomy, the relevant imaging measures to display these deformities, and
the reference anatomical unit. Craniofacial sco-
11 Classication ofJaw Malformations (Dysgnathias) inCraniofacially Malformed Patients
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Table 11.3 Aspects of disease-based skull deformation and resulting diagnostic protocols
Maxillary
Skull
Malformation
Craniosynostosis No Yes Yes CBCT/CT Virtual skull (VS)
Branchial arch diseases No No No CBCT/CT VS/mirrored skull
Orofacial clefts
Unilateral Ye s No Yes CBCT/CT or VS
Bilateral Yes Yes (minor) Ye s Lateral-front
Asymmetric dysgnathias
(alignment)
Symmetric dysgnathias Ye s Ye s Yes Lateral ceph Norm lateral ceph
base
Yes Yes Ye s Lateral-front
symmetry
Mandibular
symmetry
Analysis ReferenceObject (plain) symmetry
ceph
ceph
Norm lateral-front
ceph
137
Fig. 11.3 X-ray and CBCT of patient with severe craniofacial scoliosis. The facial axis differs extremely towards the
cranial axis
liosis is additionally a seldom disease entity,
where the cranial- facial phenotype is distorted
(Fig.11.3).
Various new technical approaches enable to
compare two 3D models. Superimposition is a
measure to relate a normal skull to a diseased
one. As landmarks are commonly used for this
process, landmark denition is a prerequisite for
a superimposition protocol. From a diseasebased approach, landmarks should be dened
for each disease entity. They should be located
at an anatomical area, which is not involved by
the underlying disease (Figs. 11.4, 11.5, 11.6,
11.7, and 11.8).
138
objects
syndromalCraniosynostosis
objects
branchialarch disease
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Fig. 11.4 Diseasebased involvement of
anatomical objects:
syndromal
craniosynostosis
Fig. 11.5 Diseasebased involvement of
anatomical objects:
branchial arch diseases
-Apert syndrome -
1
2
3
2
4
6
- Goldenhar syndrome -
U. Meyer
Disease relatedcraniofacial
involved anatomical unit
2
5
7
- cranial vault1
- skullbase2
- orbit3
- zygoma 4
- maxilla5
Unaffectedanatomicalunit
-mandible6
-chin7
Disease relatedcraniofacial
1
2
2
4
2
3
5
involved anatomicalunit
- skullbase2
- orbit 3
- zygoma 4
- maxilla 5
- mandible6
- chin 7
6
7
Unaffectedanatomicalunit
- cranial vault1
objects
orofacialcles
s
asymmetric alignement dysgnathia
11 Classication ofJaw Malformations (Dysgnathias) inCraniofacially Malformed Patients
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139
- bilateral CLP -
1
3
2
2
4
5
6
Fig. 11.6 Disease-based involvement of anatomical objects: orofacial clefts
Fig. 11.7 Disease-
based involvement of
anatomical objects:
asymmetric alignment
dysgnathias
Disease relatedcraniofacial
involved anatomical unit
- maxilla 5
2
unaffectedanatomicalunit
- cranial vault 1
- skull base 2
- orbit 3
- zygoma 4
7
-Hypercondylie -
1
2
2
4
6
2
3
5
7
- mandible 6
- chin 7
Disease relatedcraniofacial object
involved anatomical unit
- maxilla 5
- mandible 6
- chin 7
unaffectedanatomicalunit
- cranial vault1
- skull base 2
- orbit3
- zygoma 4
140
bjects
symmetric dysgnathias
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Fig. 11.8 Diseasebased involvement of
anatomical objects:
symmetric dysgnathias
U. Meyer
Disease relatedcraniofacialo
1
2
2
3
4
6
2
5
7
involved anatomicalunit
- maxilla5
- mandible 6
- chin 7
Unaffectedanatomicalunit
- cranial vault1
- skullbase2
- orbit3
- zygoma 4
Diagnostic Tools
The common classication is based on the analysis of (1) lateral cephalograms, (2) photographs,
and (3) plaster models. Given the abundance of
hard and soft tissue information contained within
lateral cephalometric images, most phenotypic
characterization has been done in two dimensions. Different analytical methods have been
employed, including shape analyses, and principal components and cluster analyses. Of these,
lateral cephalometric radiographs and clinical
photographs are the most abundant and thus are
likely to be the primary data source for largescale genotype–phenotype correlation projects.
(1) Cephalometric radiographs are taken by
orthodontists to quantitatively evaluate the skeletal relationship between the cranial base and the
maxilla or mandible, the relationship between
maxilla and mandible, and the dentoalveolar relationship [6–8]. It has supplied clinicians useful
information, especially regarding classicationbased orthodontic treatment planning [9–15].
Different authors established parameters leading
to internationally recognized skeletal classication types. Single authors like Delaire developed
special cephalometric analysis for patients with a
distorted skull base. The Delaire’s whole-skull
analysis can be applicated to patients with craniosynostoses, since the common analysis methods fail as they are related to a normal skull base
[16–19]. As some authors [18] realized the limits
of classifying patients with lateral cephalometry,
they integrated in an extended approach anterior–
posterior crane cephalometry as well. (2)
Although 2D photographs have dimensional
errors due to variations in projection and patient
positioning, 2D photographs are in use for facial
phenotyping through estimates of facial proportions, angles, and shape analyses. (3) The third
mainstay of orthodontic classication is the analysis of plaster casts. The two major drawbacks of
such a diagnostic approach (use of lateral cephalograms, photographs, plaster model) are (a) the
inability of a 3D phenotype representation and
(b) the disjunction of the dental, skeletal, and
facial data.
Changing from 2D to 3D is a new process,
enabled through the development of digital data
acquisition and advances in matching algorithms. The use of CBCT, intraoral scanning,
and facial surface detection by extraoral scanners is becoming routine in orthodontics and
cranio- maxillofacial surgery (Fig. 11.9).
Shifting from 2D to 3D is rendered possible
thanks to 3D images obtained employing computed tomography or cone-beam computerized
tomography (CBCT) [20, 21]. The digital 3D
study of the cranium starting from the axial,
sagittal, and coronal images and the corresponding 3D renderings of the volumes as well as 3D
facial surface imaging offer more accurate data,
without errors due to projection distortion or
patient positioning [22–24]. Such a diagnostic
11 Classication ofJaw Malformations (Dysgnathias) inCraniofacially Malformed Patients
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a b
c d
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Fig. 11.9 Integration of a) dental scan, b) CBCT data, and c) facial scan into one d) complex phenotype dataset
approach is much closer to reality. Different
authors established that the reproducibility of a
landmark differs on the three spatial planes (x;
y; z); this means that some points are easily
identied on one or two planes but difcult to
do so on the “z” plane. The construction of a
correct midsagittal plane has been the focus of
various studies [25–33]. In many studies, to
evaluate facial asymmetry on the 3D basis,
three-dimensional reference planes (horizontal,
midsagittal, and coronal reference planes) were
established and x, y, and z coordinates of the
landmarks to the reference planes were used
[34–39]. Figure11.10 displays a skull mirrored
at the midsagittal plane. The midsagittal plane
can be calculated at landmarks that are not
involved in the pathology. However, the method
of establishing reference planes according to the
clinician’s preferences could make the same
problem which happened in 2D analysis. The
fundamental progress from the acquisition of
3D images and visualization via volumetric rendering enables the employment of appropriate
cephalometric parameters to measure skeletal
structures so as to establish statistical ranges
regarding norms and variations.
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U. Meyer
One of the crucial points in all (2D or 3D)
cephalometric analysis is the difculty to x
limits between what is considered normal and
deviation from it. Nearly all methods of analysis
refer to an ideal facial model. Variability in the
phenotype of the cranium is extremely high, and
its architectural balance can be obtained via
numerous, even innite, possibilities of adaptation among the parts of which it is composed.
Therefore, dening a “norm” skull anatomy is
an intrinsic problem of all cephalometric analy-
Fig. 11.10 Mirroring of a skull at an ideal midsagittal
plane. The analysis displays a high congruency between
the left and right side. Landmarks at the cranial skull are
used as references
sis. To assess the altered 3D phenotype (skull,
jaw, teeth, occlusion) in craniofacially diseased
patients, one solution is to superimpose an ageand growth-adjusted “normal” skull. Through
this approach, geometric differences can be
dened, and their size calculated. 3D virtual
models constructed from CBCT scans of craniofacially diseased patients can be superimposed
with norm skulls manually by registering common stable landmarks or by best t of stable
anatomical regions. Three general methods of
3D cephalometric superimposition are well published and used for clinical diagnosis and assessment of orthodontic treatment outcomes: (1)
voxel based, (2) point/landmark based, and (3)
surface based. For overall superimposition,
these methods use parts of the anterior cranial
base, as a reference structure for CBCT superimposition, a structure known to have completed
most of its growth before the adolescent growth
spurt, therefore making it a quite stable reference structure for superimposition in patients
with complex craniofacial diseases [40–47].
Most of the limitations of 3D superimposition
techniques are related to variability in imaging
and landmark identication aws and software/
hardware- related errors (Fig. 11.11). In addition, most of the methods that have currently
been proposed for clinical settings are quite
time-consuming.
abc
Fig. 11.11 Superimposition (a, craniosynostosis patient), mirroring (b, patient with Goldenhar syndrome), and the
combined use of superimposition and mirroring (c, patient with Goldenhar syndrome) in craniofacial analysis
11 Classication ofJaw Malformations (Dysgnathias) inCraniofacially Malformed Patients
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The integration of articial intelligence in the
analysis of CBCT or CT data and the mathematical methods to automatically superimpose norm
skulls to the diseased skulls open new options to
ease such approaches [48–52].
New Classication
With all these issues in mind, we have developed
a new malocclusion/dysgnathia classication
system, focusing on the inclusion of patients with
craniofacial malformations. The new system follows two modern aspects: (a) the morphometric
approach of considering biological forms as geometric objects and (b) the phenotyping of patients
on a three-dimensional basis. Both approaches
enable a more precise determination of anatomical alterations. Whereas the rst aspect leads to a
more dened nomenclature as the basis for classication, the second one enables the anatomical
determination of anatomy in the 3D space.
Imaging measures like CT or CBCT for the soft
tissue and hard tissue components of the investigated volume, as well as scanning of the facial
surface and intraoral scanning of the dental and
alveolar structures, are based on digital data
acquisition. Through this type of data, matching
algorithms allow the integration of the different
analytical methods in one facial model. Matching
of dentoalveolar data generated from scanned
dental casts or intraoral scanners with CBCT data
and facial surface data leads to a high-resolution
phenotyping of patients. Through this approach,
it overcomes the two major drawbacks of the
present diagnostic approach (the use of lateral
cephs, photographs, plaster casts): (a) the inability of a 3D phenotype representation and (b) the
disjunction of the dental, skeletal, and facial surface data. The added value is an opportunity to
assess morphology, measurements, and position
of the live subject and be able to diagnose anatomical parameters on a virtual model in high
resolution that resembles the real subject totally.
This is of special relevance in all patients with
craniofacial malformations.
The new classication system (Table 11.4)
gives respect (a) to the 3D nature of the disease
anatomy and (b) to inherent problems of classication towards anatomical norms (intact skull
base, dened midsagittal plane). It is also focused
on the use of appropriated diagnostic tools. The
diagnostic tools can also serve as the technical
basis for virtual treatment planning and craniofa-
Table 11.4 New classication scheme of patients having craniofacial malformations
Class Denition Imaging Analysis Diseases
A Dysgnathias with symmetric
alignment
B Dysgnathias with
nonsymmetric alignment
C Dysgnathias with altered
object symmetry
CBCT Mirroring CBCT Orofacial clefts
D Dysgnathias with altered skull
base
E Dysgnathias with altered skull
base and midfacial plane
Lateral ceph 1 plane ceph analysis Normal dysgnathias
Lateral+frontal
ceph
Lateral+frontal
ceph
CBCT/CT Superimposition norm skull Craniosynostosis
CBCT/CT Mirroring
2 plane ceph analysis Hypercondylie, jaw
tilting
2 plane ceph analysis CLP
Branchial arch
CBCT+superimposition norm
skull
diseases
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U. Meyer
abc
Fig. 11.12 Modern approach of a) data use, b) planning, and c) execution of craniofacial reconstruction procedures
cial reconstruction surgery (PSI-based orthognathic surgery and PSI bone augmentation,
Fig.11.12).
Conclusion
Common malocclusion classication systems
fail to determine a precise phenotyping of craniofacial malformed patients. The combined application of a geometric based jaw/skull
classication system and the use of a diseaserelated extended phenotyping protocol by digital
data acquisition (CBCT/dental scan, facial scan)
allows a precise classication of patients with
craniofacial malformations.
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