Special Topics
A Morphogenetic Classification of
Craniofacial Malformations
]. C. van der Meulen, M.D., R. Mazzola, M.D., C. Vermey-Keers, M.D., M. Stricker, M.D., and
B. Raphael, M.D.
Leiden and Rottndam, The l'v'etherland\·, lv'mu)' and Grenoble, France, and Afzlan, !tat;·
Craniofacial malforn1ations are relatively rare,
and because of their multiple variations, it is
difficult to classify them. The terminology has
always been far frmn satisfactory, and there has
been absolutely no unanimity in a system of
classification up to now. Most authors have re-
stricted themselves to an analysis of a more or less
sharply defined area of the face. Tessier1 was one
of the first who dared to break with the tradition
in an attempt to establish a logical and orderly
system for all the established craniofacial malfor-
mations. He considers a cleft to be at the basis of
each of the malformations described. He argues
that these clefts are situated along very definite
axes, and he also stresses that although bone and
soft tissue are rarely involved to the same extent,
''a fissure of the soft tissues corresponds with a
cleft of the bony structures, while the converse is
also true."
In order to simplify the nomenclature of the
clefts described, Tessier 1 devised a system in
which a number is assigned to the site of each
malformation depending on its relationship to
the sagittal midline. This system has become
widely accepted in a very short time, because the
recording of malformations is made easier and
communication between observers is facilitated.
The system is, however, a descriptive, clinical
classification that is not related to the embryology
of the malformation, 2 and understanding of the
underlying pathology is not really increased. In
fact, the use of the word clefting may even create
confusion where no cleft exists. For example, De
Myer3 considers a cleft to be "a defect in apposi-
tion of structures along a junction." This concept
is easy to accept when it refers to a primary or
transformation defect caused by the failure of
fusion of junctional structures, but it becomes
Received for publication March L 1982.
560
unreliable when it refers to secondary or differ-
entiation defects, 2 such as oro-ocular clefts (Mar-
ian II and III),' which cannot be explained by
classical embryologic theories, and it can certainly
not be applied to such malformations as teleor-
bitism, Treacher Collins syndron1e, hemifacial
microsomia, and so forth. These malformations
may in fact be associated with a cleft, but basi-
cally none of the cleft characteristics are present.
Therefore, we feel that the word cleft is a misno-
mer because it makes it impossible to include
such malformations as nasal aplasia, with or with-
out proboscis, anophthalmia, or microtia. As a
result, the Tessier classification becomes incom-
plete. The objections mentioned here can be over-
come by the embryologic classification we are about
to propose and in which we have tried to empha-
size a correlation between clinical observation
and morphogenesis. This classification provides a
framework which, on the one hand, is based on
solid knowledge-gained either from the litera-
ture or from personal experience-and, on the
other hand, leaves enough flexibility to be modi-
fied by future additional information.
IDENTIFICATION OF CRAKIOFACIAL
MALFORMATIONS
As a general rule, no classification is possible
without having clearly identified the individual
phenomena to be classified. This requires, first of
all, an agreement on the terminology. As a second
step, an accurate study of the similarities and
dissimilarities is essential. Deductions can be
drawn afterwards.
Some of the craniofacial malformations are
identified by the name of the author who first
described them (Goldenhar, Pierre Robin, and so
forth). Such a name may convey a meaning to
Vol. 71, 1\!o. 4/ CLASSIFICATION OF CRAJ\'IOFACIAL MALFORMATIONS
the insider but is easily forgotten by the layperson.
Other malformations are identified by their ap-
pearance and have been given such names as a
cleft, hemifacial microsomia, retromandibulism,
hypertelorism, and so forth, thus risking to create
the impression that these malformations have a
different etiology, which, in fact, may not be true.
The ultimate form of the craniofacial skeleton
is determined by the growth or lack of growth in
such functional areas as the cerebrum, the eye,
the nose, and a number of ossification centers.
VVhen one wishes to include all craniofacial mal-
formations in a classification and also use a com-
mon denominator, dysplasia is the only term that
is applicable.
An arrest in skin, muscle, or bone development,
no matter what the etiology, will manifest itself
in "focal fetal dysplasia." The consequences of
this dysplasia, or, in other words, its ultimate
appearance and severity, therefore depend on the
localization and the time of the disturbance.
Identification by the Localization of the Malformation
To-allow for proper identification, the dyspla-
sia should be named after the area or areas (facial
processes or bones) involved. Modern knowledge
of the normal embryonic and fetal growth pro-
cesses has increased our understanding of the
underlying pathology and provides the basis for
a morphogenetic classification.
Identiji'cation by the Time of the Developmental Arrest
Whether or not the cerebrum and/ or the eyes
are involved has a most important bearing on the
severity of a malformation. A developmental ar-
rest of the forebrain will affect the development
of the craniofacial skeleton and is incompatible
with normal life. This aspect should receive atten-
tion in a classification, and distinction should
~
. '
--:)- -ry- _./
?_?)-
..,./
FIG. 1. .Morphogenesis of maxillary dysplasia (oro-ocular deft production).
561
therefore be made between groups with or with-
out cerebral involvement.
Furthermore, the severity of a malformation
will depend to a considerable degree on whether
dysostosis or synostosis is present. The difference
between the two should be stressed and translated
into a second subdivision between craniofacial
malformations with dysostosis and those with
synostosis. In malformations characterized by dy-
sostosis, distinction can again be made between
transformation defects, which are caused by a devel-
opmental arrest occurring before or during the
fusion of the facial processes (,; 17 mm C.R.L.)
and dijferentiation defects, which originate after this
. d .2
periO
The first category consists of skeletal malfor-
mations produced by focal dysplasia of growth
centers such as the eye vesicle and nasal placode
and/ or by lack of cell degeneration between the
facial processes resulting in primary clefts 2 The
second category represents defects that are caused
by defective differentiation and outgrowth of
bone centers and cartilage, such as hemifacial
microsomia and the secondary clefts 2 These dif-
ferentiation defects may vary widely in their ap-
pearance, because they develop only when the
ectoderm of the face has closed. The fact that the
appearance of a secondary cleft is different from
that of a malformation such as hemifacial micro-
somia can be easily understood when one visual-
izes what may happen when growth is arrested in
one area while it continues in the normal sur-
rounding tissues. An hour-glass deformity5 may
develop, with the developmental arrest in the
middle behaving as a scar that prevents the sur-
rounding tissues from growing normally (Fig. 1).
Depending on the particular qualities of these
tissues a series of defects may be produced such
as colobomata of the lower eyelid and upper lip,
_.--
~
,,~
?It
__/
562 PLASTIC AKD RECONSTRUCTIVE SURGERY, Apri/1983

an alar cleft, or an irregularity of the hairline ties belonging to this group have been widely
(widow's peak). Finally, after comparing one cra- reported in the literature.:::.-/ At one end of the
niofacial malformation with another, it has be- range one finds cyclopia, synophthalmus, or syn-
come obvious that all these malformations can be orbitism with holoprosencephaly and complete
graded and identified with certain stages of em- absence of the midline facial structures. From this
bryonic life. stage, the spectrum of cerebral craniofacial anom-
alies with hypotelorism moves through ethmoce-
MATERIALS AND METHODS
phaly, cebocephaly, and median cleft lip without
The present study is based on an intensive a premaxilla toward the normal states.
search of the literature on craniofacial malfor- Ophthalmic dysplasia. Malformations of the eye
mations and on observations of a great number are quite common, such as anophthalmos, micro-
of patients seen at the Departments of Plastic and phthalmias, and coloboma of the eyewall. They
Reconstructive Surgery of the University Hospi- may be found in combination with many of the
tals of Milan, Rotterdam, and Nancy, respec- other dysplasias to be described.
tively. Diagrams of representative cases have been
made, showing the subdivision of the classifica- Craniofacial Dysplasias
tion based on our knowledge of the embryology.
Dysostoses. Chronologically, development of
CLASSIFICATIOI'." OF CRAKIOFACIAL the craniofacial skeleton proceeds along a helical
MALFORMATIONS course, symbolized by the letter S (Fig. 2). It
starts with the formation of the middle and an-
Cerebral Craniofacial Dysplasias terior cranial fossae in a posteroanterior direction
lnterophthalmic dysplasia. We have grouped un- and with the reduction of interorbital distance. It
der this heading cases with either agenesis or is followed by the growth of the nasomaxillary
hypodevelopment of the midline structures of the complex, expanding forward, downward, and lat-
face and brain. They have in common an absence erally, and it is completed by the lengthening of
or severe hypoplasia of the premaxillary nasal the mandibular ramus that is produced by this
and lacrimal bones, nasal septum, and the eth- expansion. Since the anterior projection of the
moid with crista galli. The combination in differ- greater wing of the sphenoid seems to play an
ent degrees of the preceding defects with hypo- important role in this development, we have cho-
telorism is pathognomonic of a brain that has sen to start the craniofacial helix, in the latera-
failed to divide into cerebral hemispheres (holo- posterior wall of the orbit, at the junction of
prosencephaly) and that normally lacks olfactory sphenoid and frontal bone. The upper half of the
bulbs and tracts (arhinencephaly). The deformi- S encircles the orbit and the lower half of the S

Fronto-sphenoidal o. Cranio-Facial Dysplasias

~

~
~
FrontalD. Zygo-frontal D.

~-.
----- <

~~~'
Zygomatic D.
lotec Fcoot.l D. \ .. .. c•<o

I
Fronto-nas-al D. H \ ,·:Z_,:_,
,---......__ \.. / Zygo-temporal D
n ;II·
I
Inter-nasal D.

. '~~$F~~ ,I
Nasal D. ~~~~:·j}!1£ ( ' \ ~ Temporo-auro·
mandtbular D.

~">"-~r-
~r-;1----c'j'--------- Maxilla-mandibular D.

Maxillary D.
···_· __ · ._ .. .;.-·:;;;;+(; L
. ' ·. I .. •. :::... ·. :: .· .."· :·; '·~;•: : ~ ...···
Mandibular D.

.
- I n t e r - m a n d i b u l a r D.

Fie;. 2. Craniofacial helix symbolized by letterS.

Vol. 71) No.4/ CLASSIFICATIOl\. OF CRANIOFACIAL MALFORMATIONS 563
TABLE I widow's peak and dystopia of the eyebrow may
Periocular Dysplasias also be observed. Depending on the location and
severity of the bony defects, a variety of enceph-
Blepharocanthal: aloceles may result (Fig. 4). In his classification,
Ablepharon Tessier 1 distinguishes between clefts No. 10 and
Ankyloblepharon 1 1, ro- 13 ass1gn1ng
· · to eac h a speci·fi1c 1ocatwn
· 1n
· th e
Euryblepharon
Epiblepharon frontal bone. We find it difficult to accept that
Blepharophimosis the location and form of these defects are subject
Blepharoschizis
to a rule and believe that they are determined by
Epicanthus
Telecanthus the degree of growth retardation within one of
Muscular:

,-,
Ptosis
Strabismus
Scleral:
Dermolipoma
Nasolacrimal:
Fistula
Atresia
Diverticulum

l( ),---
lu.~y 1~
encircles the mouth. Dysplasias in the upper half
of the S may be associated with ocular and peri-

l~(,l,: -J'
ocular dysplasia (Table I). Dysplasias of the lower
half of the S are frequently betrayed by the
presence of preauricular tags, pits, and fistulas.
Combinations of dysplasias in adjoining areas are
described in this section, but only after due atten-
tion has been given to a description of the dyspla-
sias separately. Combinations of dysplasias in
separate areas of the face that are not in conti-
nuity with the S are not discussed.
Bilateral occurrence of similar or different mal-
formations and monolateral occurrence of differ-
ent malformations are all possible and in fact
-
<1ft>

Fro. 3. Frontosphenoidal dysplasia.

have been described. When encountered, how-
ever, they can now be identified with more ease.
Sphenofrontal dysplasia. Our review of the dif-
ferent forms of craniofacial dysostosis starts with
malformations of the sphenofrontal area (Fig. 3).
It is in this area that dysostosis and synostosis
overlap with each other in a curious way and a
clue to the delineation of the two pathologic
processes may eventually be found. Comparison ,--..
of rare cases of bony "cleft" formation (Tessier
No. 9 cleft) in the sphenofrontal and sphenozy-
gomatic area with the cranial grooves, which one
can observe in "clover leaf' skull malformations
(Fig. 3) and to a lesser degree in patients with
plagiocephaly, brings us to the conclusion that
there is a striking similarity in the localization of
these malformations, stimulating speculation as
<Af>·
to their cause. Unfortunately, too little is known
about their pathology.
Frontal dysplasia. Orbital hypertelorism or te-
leorbitism and nasal dysplasia are frequently as-
-
sociated with defects in the frontal bone. A FIG. 4. Frontal dysplasia.
564 PLASTIC AND RECONSTRUCTIVE SURGERY, Apriff983

the paired centers of the frontal bone. This means

that they may be found anywhere, as an isolated
frontal bone defect or in continuity with areas of
deficient ossification in the nasal or n1axillary
bones.
Frontofrontal dysplasia. Bone defects with or
without encephaloceles are sometimes found in
the midline between or below the two halves of
~-- /".---_

~~~l ~.;&,
the frontal bone (Fig. 5). They may occur in
combination with frontonasoethmoidal and in-
ternasal dysplasias.
Frontonasoethrnoidal dysplasia. In the literature,
the name frontonasal has been given to a wide
variety of malformations occurring in the fron-
(. ~~·-4.
tonasal process. We believe it to be a misnomer
because it is not sufficiently specific, and we
suggest that the term frontonasal or frontonasoeth-
~
...,...
moidal should be reserved for developmental ac-
tivities (including their absence) at the junction
of the frontal and nasal or ethmoidal bones.
FIG. 6. Frontonasoethmoidal dysplasia.
When) for example, reduction of the interor-
bital distance does not occur and a hyperteloric
situation (Fig. 6) is retained, we feel justified in
using the termfrontonasoethmoidal dysplasia. What-
ever the cause of the orbital hypertelorism or
teleorbitism, it is certainly not a cleft. Widening
of the ethmoid bone, its cribriform plate, or its

----
crista galli are not necessarily symptoms of a cleft.
To us these features merely represent the effects

~----
~~ f ~'
of a deficient development of the nasal capsule, - lj, fJ,
which may allow for further growth but not for
further modeling by narrowing and/ or elonga-
tion of the bony structures involved.

( ,H... J
/ fie>-
/ .....,....
J
J
~ ~
:::?
,--- FIG. 7. Internasal dysplasia.
:1
~'} ~
::, Internasal dysplasia. Internasal dysplasia (me-
~ dian cleft nose, bifid nose, doggennase, No. 0 cleft)
-.....=- = represents a group of malformations in which two
'><'
( --, _) nasal halves of normal appearance are separated
by a groove (Fig. 7) that may be wide and shallow
or narrow and deep. This condition is frequently
ftifi'> associated with a median cleft lip. Orbital hyper-
telorism or teleorbitism is always present in the
~
more severe cases, its degree increasing with the
width of the internasal defect or groove. The
pren1axillae are not absent, but they may be
FIG. 5. Frontofronta! dysplasia. retarded in development and not fused (premax-
Vol. 71, No. 4 / CLASSIFICATIO;\f OF CRAKIOFACIAL MALFORMATIONS 565
illopremaxillary dysplasia). The maxilla may
show a keel-shaped deformity with the incisors
rotated upward in each half of the alveolar proc-
ess.
Sometimes a medial cleft is also found in the
palate, which has the form of an inverted V and
may extend up to the cribriform plate 7 • 8 The
distance between the palate and the cranial base
is extremely short, and in the remaining inter-
~
nasal space, little else may be found but an
undifferentiated cartilaginous mass. A widow's
•~~
..
peak is frequently observed.
Nasal dysplasia. Since embryologically the
nose is made of two distinct nasal halves 2 and the
majority of the nasal malformations are restricted
A$5»
---
to one of these halves, it seems appropriate that
the name nasal dysplasia should be used only to
indicate a unilateral malformation, while the
word rhinal should be applied when both halves
are involved. Nasal malforn1ations are extremely
rare, and it is possible to distinguish between four FIG. 9. Nasal dysplasia (type 2).
different types:
1. Nasal aplasia sphenoidal, and frontal sinuses has failed, and
2. Nasal aplasia with proboscis exploration reveals nothing but solid bone. There
3. Nasoschizis is no nasolacrimal duct; instead, cyst formations
4. Nasal duplication or infections in the deformed lacrimal system 9 are
}lasal aplasia. This malformation is character- frequently encountered. The affected half of the
ized by complete absence of one nasal half (Fig. maxilla may be hypoplastic, and the palatal vault
8). When both halves are absent, the term arhlnla may be high and acutely arched. The premaxillae
should be used. In nasal aplasia, there is no nasal are relatively normal. 2
cavity and the cribriform plate, the olfactory Nasal aplasia with proboscis. These are the mal-
bulb, and the nasal bone are similarly missing. formations in which aplasia-with all its charac-
Pneumatization of the maxillary, ethmoidal, teristics-is associated with a proboscis (Fig. 9).
The origin of this club-shaped appendix is com-
monly found at the upper inner canthal region.
Examination of the proboscis may reveal the
same tissues as are found in a normal nose: hair,
sebaceous glands, sweat glands, striated muscle
fibers, nerve fibers, and cartilage. There is, how-
ever, one major difference: The proboscis does
,;-----...... not contain a cavity but a narrow tract with a

...-=:::---
'(!)"
~
~\ r~ ..___..
mucous lining that ends blindly at the level of the
dura mater or at the cranial base, where the
cribriform plate and olfactory tracts are missing.
Tears have been known to issue from this tract,
but their origin is not clear. They may have been

l-) produced by lacrimal gland tissue surrounding

the tract 10 or have come from a communication
wit. h a lacnma. l apparatus. l l

-fF>- lv'asoschizis. Nasoschizis (Tessier's No. 1 cleft)

- is characterized by a deformity of one-half of the

nose in the presence of a normal septum and a
nasal cavity (Fig. 10). This malformation is prob-
ably not as rare as one might expect from the
F1c. 8. Nasa! dysplasia (type 1). scarce literature on this subject, since Mazzola 7
566 PLASTIC AND RECONSTRUCTIVE SURGERY, April ]983

scale of variations may range from a bifid nostril

~ ~
to complete rhinal duplication.
Nasomaxil!ary dysplasia. This category consists
of two groups. The first consists of the lateral
nasal maxillary dysplasias, which have their ori-
gin at the junction of the lateral nasal and max-
illary processes. The second group consists of the
medial nasal maxillary dysplasias, which are

~J~ ~. (!],
found at the junction of the medial nasal and
maxillary and lateral nasal processes.
jf
~ ~.;..) ....:::;;.---
In lateral nasal maxillary dysplasias, distinc-
tion should be n1ade between transformation de-
fects that develop before fusion of the lateral
nasal and maxillary processes has taken place and
differentiation defects that are found after the

'
-
-:-§@--
FIG. 10. :'\asal dysplasia (type 3).
was able to add 14 cases of his own. The severity
of the malformation ranges from a more or less
complete cleft of one-half of the nose with absence
of the nasal bone to minor deformities of the ala
consisting of one simple notch or even two
notches. Severe nasoschizis, teleorbitism, and a
widow's peak arc frequently found together, reas-
sembling the typical hour-glass deformity,' which
also may be produced by maxillary dysplasia.
Nasal duplication. Duplication of one-half of
the nose (Fig. 11) is also known to occur in
different forms. Mazzola's 7 cases show that the
ectoderm has closed. 2 Transformation defects
consist of a real ectodermal and bony cleft be-
tween the lateral nasal and maxillary processes
along the nonfused nasolacrimal groove. In these
cases, the nasolacrimal duct is absent or partialiy
developed. Differentiation defects represent mal-
formations that are caused by deficient ossifica-
tion occurring after the fusion of the lateral nasal
and maxillary processes. They are characterized
by a shortening of the distance between the alar
base, which is found in a cranial position, and the
medial canthus, which is dislocated downward.
The involvement of the maxilla can be deduced
from such deformities as canthal dystopia, dysos-
tosis of the frontal process of the maxilla, and
caudal displacement of the orbital floor.
In medial nasal maxillary dysplasias, distinc-
tion can again be made between transformation
and differentiation defects. 2 A transformation de-
fect is characterized by an ectodermal and bony
cleft between the medial nasal and maxillary and
lateral nasal processes. The cleft lip thus produced
is frequently found in combination with other
craniofacial dysplasias, but with lateral nasomax-
illary dysplasia (Fig. 12) it forms the well-known
malformation also known as Marian I,4 Tessier

-- No. 3, l or naso-ocu 1ar cleft. Gunter,

.. 12
/~ ~
however,

~~ \·e-
coined the term "nasomacillary." Differentiation

~)
defects are recognizable as a bony cleft between

~/ -
premaxilla and maxilla (premacilla-maxillary
dysplasia). The ectoderm of the lip is closed.

& ,t ..,.J Maxillary dysplasia. The medial oro-ocular

cleft (No. 4 cleft of Tessier or Marian II "cleft")
and the lateral oro-ocular cleft (No. 5 cleft of
<f:di> Tessier or Marian III "cleft") are two of the

- commonly used terms for a malformation in that

part of the craniofacial skeleton that has been
formed by the maxilla.
The medial oro-ocular cleft (Fig. 13), called in
FIG. 11. Nasal dysplasia (type 4). this classification medial maxillary dysplasia, runs
Vol. JJ, No. 4 /CLASSIFICATION OF CRANIOFACIAL MALFORMATIONS
~
I ~
f' r,.&
'\ '
- ....
Frc. 12. Nasomaxillary dysplasia.
from the medial third of the lower eyelid to the
upper lip, midway between the philtra! crest and
the labial commissure. The nose is left free, and
in extreme cases, the position of the nasal nostril
aperture is at the same level as the eyeball. Con-
tact between the edges of the cleft varies. Some-
times there is a huge gap with nothing to separate
the contents of the orbit from the mouth. More
commonly, however, there is an epithelial bridge
connecting the colobomata of the lower eyelid
and the upper lip. The skeletal malformation is
------ (:oc;,,.--..
(_ ... )
FIG. 13. Medial maxillary dysplasia.
567
generally considered to consist of a cleft. In the
maxillary body, this cleft is situated medially to
the foramen of the infraorbital nerve. In the
alveolar process it proceeds between the lateral
incisor and the canine tooth. 1' 4 However, the
existence of a bony cleft cannot always be dem-
onstrated.
In a patient of the first author, the malforma-
tion of the soft tissues was not associated with a
bony cleft, but with severe hypoplasia of the
maxilla. The same observations were made by
Miller et al. 13
The lateral oro-ocular cleft (Fig. 14) connects
mouth and orbit by colobomata in the lateral
third of the lower eyelid and the lateral third of
the upper lip. In the maxillary bone, the cleft
runs laterally from the infraorbital foramen, jus-
tifying the term lateral maxillary dysplasia. These
malformations are extremely rare, and conse-
quently, there has been little opportunity to study
their morphology.
Morian 4 and Tessier 1 observed that the bony
defect on the orbital side was located at the body
of the maxilla, while on the alveolar side it was
situated between the canine tooth and the pre-
molar. These findings suggest that the malfor-
mation is restricted to the maxilla, implying that
we are dealing with a pure maxillary dysplasia.
The similarity between the localization of the
soft-tissue malformation found in lateral maxil-
lary dysplasia and Treacher Collins syndrome
may, however, be so striking that there is reason
to suspect t\1at at least in some of the so-called
~___,
~~'
\(,, (~ .. )
'·.
Fie. 14. Lateral maxillary dysplasia.
568
lateral oro-ocular clefts, the zygoma is also in-
volved.
Duhamel 14 in fact has stated that the maxillary
dysplasia in patients with a lateral oro-ocular
cleft is frequently associated with a malformation
of the malar bone. Duke-Elder 1'5 even names these
malformations "maxillozygomatic dysplasias."
Maxi//ozygomatic dysplasia. This is the No. 6
cleft of Tessier/ which he considers to form an
integral part of the Treacher Collins syndrome.
In the skeleton, a defect is found between the
maxillary and zygomatic bones. In the soft tissues,
the dysplasia is marked by the existence of a
groove that runs from the lateral third of the
lower eyelid downward in the direction of the
corner of the mouth or more laterally.
The orientation of this groove is virtually iden-
tical to that of the soft-tissue malformations found
in lateral maxillary dysplasia and in Treacher
Collins syndrome, suggesting that the clinical
appearance is not always sufficient to predict the
nature of the underlying osseous malformation
and that diagnosis is only possible after inspection
of the skeleton. These patients are rare, data are
scarce, and more information is urgently needed.
For instance, it may well be that Pitangu/s 16 case
with bilateral clefts should not be classified as a
lateral maxillary dysplasia or a Tessier No.5 cleft,
but as an example of bilateral maxillozygomatic
or even zygomatic dysplasia. An oral view of this
patient gives the impression that the bony defect
is not situated in the maxilla itself, but in the
zygoma.
17
Hovey et al. correctly noted the resemblance
between a patient of Rogers with Treacher Col-
lins syndrome and Pitanguy's case. In a patient
of the first author with a Treacher Collins syn-
drome, the course of the deep grooves between
the lateral corner of the mouth and the lateral
part of the lower eyelid was similar to that of the
grooves found in a No. 5 cleft. At exploration,
however, the malformation proved to be caused
by an absence of both malar bones.
Zygomatic dysplasia. Malar hypoplasia is the
hallmark of the malformation known as Treacher
Collins syndrome. The dysplasia of the malar
bone is usually associated with antimongoloid
angulation of the palpebral fissures, notching of
the lateral part of the lower eyelids, partial ab-
sence of eyelashes in the lower eyelids, flattening
of the cheeks, and occasionally, a groove running
from the lateral part of the lower eyelid to the
corner of the mouth or more laterally. VVhen no
other symptoms are found, it seems justified to
speak of the incomplete form of the syndrome,
PLASTIC AND RECONSTRUCTIVE SURGERY, AprilJ98J
which, with few exceptions, is found bilaterally
(Fig. 15).
Zygo}Tontal dysplasia. This is the No. 8 cleft of
Tessier/ which can be observed in Treacher Col-
lins and Goldenhar syndromes. The cleft is ob-
viously the result of a developmental arrest in the
fusion, i.e., suture formation, of frontal bone and
zygoma. It may be characterized by the presence
of an epibulbar dermoid and the absence of a
lateral canthus.
Zygotemporal dysplasia. Clefts at the borderline
between zygoma and temporal bone (No. 7 cleft
of Tessier) can be found in Treacher Collins
syndrome as well as in hemifacial microsomia.
The malforn1ation may be associated with a dys-
plasia of the temporal muscle and with anterior
displacement of the sideburns.
Temporoaural dysplasia. The word aural signifies
everything pertaining to the ear, i.e., the auris.
The term temporoaural focuses attention on the
intimate developmental relationship in tin1e and
space between parts of the temporal bone and the
different aural structures.
Distinction can be made between dysplasias of
the external ear, the middle ear, and the inner
ear. The malformations that result can occur
separately or in combination with each other.
They are representative of the stage at which
normal development was disturbed, and compar-
ison of auricular malformations with the different
stages of development makes it clear that n1ajor
deformities, such as microtia, reflect an arrest or
an early disturbance of the embryonic develop-
ment of the external ear, while other deformities,
/~-
~ \
~T
----
~~~
1\,~/
~
, ~
:- (.i_ , ) :,
.Ai5':-
-
Frc. 1.5. Zygomatic dysplasia.
Vol. 71, No. 4 /CLASSIFICATION OF CRAKIOFACIAL MALFORMATIOKS
such as lop-ear and cup-ears, are clearly generated
at a later stage. 18 Temporoaural dysplasia may
be associated with a paralysis of the facial nerve. 19
Zygotemporoauromandibular dysplasia. This is the
complete form of Treacher Collins syndrome. It
was described by Franceschetti, Zwahlen, and
Klein, 20 • 21 who referred to it as ''mandibulofacial
dysostosis." In this malformation, the character-
istic features of zygomatic dysplasia are associated
with those of (1) zygotemporal dysplasia (forward
displacement of sideburns and deficiencies of the
temporal and masseteric muscles), (2) tempo-
roaural dysplasia (malformations of the external
and middle ear, rarely of the inner ear), and (3)
mandibular dysplasia (malformation of the con-
dylar and coronoid processes, deficiencies of the
mandibular ramus, and obtuse angulation and
antegonial notching22 of the mandible (Fig. 16).
Like the incomplete form, zygotemporoauro-
mandibular dysplasia is almost always bilateral.
The syndrome may be associated with malfor-
mations of the eye, the nose, and the mouth.
22
Pruzansky, however, reported that the degree of
external ear malformations does not correlate
with hearing function. In most patients, the mal-
formation is unilateral. The incidence of bilateral
to unilateral cases ranges between 1 to 6 23 and 1
to 18. 24 The malformation may be associated with
deficiencies of the temporal, pterygoid, and mas-
seter musculature, with facial nerve anomalies
and with hypoplasia of the parotid gland. Abnor-
malities of the palate, maxilla, zygoma, and ver-
tebrae may also exist.
~~­
~
~
FIG. 16. Zygotemporoauromandibular dysplasia.
569
_
/ ........
-~
~ ~-
~) 'e'
{ -)
rGp
~
FIG. 17. Temporoauromandibular dysplasia.
Temporoauromandibular dysplasia. Auromandibu-
25
lar dysostosis, hemifacial microsomia, branchial
26
arch syndrome, and auriculobranchiogenic dys-
plasia27 are but a few of the terms used to indicate
this syndrome, of which condylar anomalies seem
to be the hallmark. A whole scale of variations
(Fig. 1 7) is possible, ranging from temporoaural
malformations of maximal severity, coexisting
with mandibular deformities that are scarcely
apparent, to minimal malformations of external
and middle ear associated with characteristic
maldevelopment of the mandibular ramus and
condylar process. 24
A radiographic analysis of first and second
branchial arch anomalies brought Caldarelli and
Valvassori 28 to the conclusion that the severity of
external ear malformations parallels the severity
of mandibular malformations, although not nec-
essarily in terms of gradation specificity. Accord-
ing to these authors, there is also a parallel be-
tween the severity of ossicular and auditory canal
dysplasia with the severity of either the external
ear or mandibular malformation.
Maxillomandibular dysplasia. A failure of the
maxillary and mandibular processes to fuse re-
sults in macrostomia, a malformation character-
ized by a transverse "cleft" running from the
angle of the enlarged mouth to the tragal area
(Fig. 18). Most of these clefts are associated with
preauricular appendages or fistulas, but other
temporoaural dysplasias (middle ear deformities,
etc.) and maldevelopment of the mandible may
570 PLASTIC AND RECONSTRUCTIVE SURGERY, April /983

in a normal mandible. Micrognathia should,

~~
however, be distinguished from retrognathia, in
which a mandible of normal size is held back by
°
abnormal musculature. 3 For an excellent review

' /II} of this malformation, the reader should consult

the work of Randall and Hamilton 81
Intermandibular dysplasia. This malformation

'--=:~
1!Jj~
t= ~~ completes the list of craniofacial dysplasias. Clefts
of the lower lip and mandible are clearly caused
by a failure of the two mandibular bone centers
to fuse, i.e., a secondary defect (Fig. 20).
Synostoses. Craniofacial malformations with
synostosis can be purely cranial or facial or they
( -J can be of a craniofacial nature. Craniosynostosis

~-~
~Zj/
_,__
FIG. 18. Maxillomandibular dysplasia.
also occur. Unilateral as well as bilateral cases
have been described.
Mandibular dysplasias. Best known in this
group is the Pierre Robin 29 anomalad (Fig. 19),
which consists of micrognathia, glossoptosis re-
sulting in respiratory distress, and cleft palate.
Two types of micrognathia exist. In the first type,
the mandible is small and remains small. In the
second, r~pid growth is seen after birth, resulting
comprises a group of malformations that are usu-
ally classified by their appearance and known
under the following names: dolichocephaly, bra-
chycephaly, acrocephaly, triogonocephaly, and
plagiocephaly. To many, these words convey no
meaning, and it would therefore be wiser to use
names that refer to the localization of the affected
sutures, such as sagittal dysplasia, coronal dyspla-
sia, sagittocoronal dysplasia, metopic or frontal
dysplasia, and monolateral coronal dysplasia,
thus following the advice of Bertelsen. 32
Whether synostosis is a secondary manifesta-
tion of an underlying malformation in the basi-
cranium, as Moss 33 and Stewart et al. 34 want us
to believe, or a primary event in the sutural
tissues, as has been postulated by Parks and
Powers 35 and recently by Cohen/ 6 is still not

/''
-t-- ./
~---)
~
F-
- J'!t
(.l.,_ ~)

Frc. 19. Mandibular dysplasia. Frc. 20. Intermandibular dysplasia.

Vol. 71) No. 4 I CLASSIFICATI0:'\1 OF CRANIOFACIAL MALFORMATIONS
known. We tend to agree with Cohen, that what-
ever mechanism responsible for progressive cal-
cification throughout the body-as in Apert's
syndrome-should also be held responsible for
premature craniosynostosis. As one of us said,
"The sutural tissues are too old too early."
However, the relation between dysostosis and
synostosis and the role played by each of these
processes in the production of a malformation
will have to be specified before accurate classifi-
cation of craniofacial malformations with synos-
tosis becomes possible. This applies especially to
facial malformations, since premature fusion of
bone centers in the face is even more difficult to
diagnose.
DISCUSSION
Classifications of common and rare craniofacial
clefts are almost always based on their localiza-
.
twn, .
Le., . topograp h y. 1' 7' 37-:J9 sorne aut h ors
t h e1r
divide the face into more or less vertical re-
39
gions,'· 38 • others group the defects around the
brain, sense organs, and the branchial arch sys-
tem,40 and still others4 ' 6 ' 41 ' 42 confine themselves
to a description of some rare defects of the face.
Tessier 1 introduced a cleft numbering system of
practical, clinical value from 1 to 14 in which the
orbit takes a key position. None of these authors
classified on an embryologic basis, because some
clefts could not be explained in terms of devel-
opment.
To facilitate communication and avoid confu-
sion the word dysplasia is advocated as the com-
mon denominator for all the malformations to be
discussed. The localization of each malformation
is indicated with the name of the developmental
area or areas (facial processes and bones) in-
volved. From the embryologic point of view, a
distinction must first of all be made between
cerebral craniofacial defects involving the brain
and/or the eyes and defects of the face and
cranium, the so-called craniofacial defects. The
cerebral craniofacial malformations develop very
early in embryonic life 2 The different types of
3
the holoprosencephalon group have in common
absence of the area between the nasal placodes.
The anlage of the two eye vesicles occurs in
separate eye fields, and they fuse in the facial
midline during and after the closure of the neural
tube in that area. This developmental view is
contrary to the general idea that the cyclopic
condition is the result of the faulty organization
of paired optic centers in a common eye field 42
The subdivision of craniofacial malformations
into dysplasias with dysostosis and dysplasias
571
with synostosis is indicated because the localiza-
tion of areas with premature synostosis corre-
sponds with the sutural defects of dysostosis. The
pathomorphogenesis of synostosis is now under
study.
Craniofacial malformations with dysostosis
may originate before the facial processes have
fused and ossification has started (± 17 mm
C.R.L.). They are then called transformation defects.
Nasal aplasia and the primary clefts that continue
to separate the facial processes belong to this
category. However, dysostosis may also be pro-
duced by deficient ossification of bone centers
after the primitive face has formed. The malfor-
mations then produced are named differentiation
defects. Theoretically, these defects can be caused
by the absence of the "anlage" of bone centers or
2
by insufficient outgrowth of these centers
SuMMARY
A new classification of malformations of the
face and cranium is proposed, based on embryol-
ogic studies 2 and observations concerning a great
number of patients seen by the authors. First of
all, one should distinguish between cerebral cra-
niofacial (with brain and/or eyes involved) and
craniofacial malformations. Craniofacial malfor-
mations may be characterized by dysostosis and
by synostosis. Malformations with dysostosis may
be produced by transformation as well as differ-
entiation defects. Synostosis is always caused by
a differentiation defect. A new nomenclature is
introduced.
]. C. van der Meulen, M.D.
Acad. Hospital Rotterdam-DUkzigt
Dr. Molewaterplein 40
3015 CD Rotterdam
The Netherlands
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