3
Craniofacial Deformities: Review of Etiologies,
Distribution, and Their Classification
Craig R. Dufresne
Clinicians who study or treat individuals with congenital mal-
formations of the head and neck realize that the spectrum of
craniofacial malformations represents a relatively rare set of
conditions that exist in a multitude of patterns and in varying
degrees of severity. Over several years, many groupings of
classifications have been put forth in an attempt to organize
these conditions.1,2 Most either had been arbitrary or could
not be standardized enough to be widely accepted because of
extreme or bizarre distortions of the anatomy.3,4 Further con-
fusion has arisen because there has not been any unanimity
of terminology or satisfactory standardization of the classifi-
cation of the innumerable craniofacial syndromes. At present,
there are over 150 craniofacial syndromes, with new syn-
dromes being described and published at the rate of 25 to 50
per year.5,6 Many specialties within the health profession have
taken an interest in this task as the study of craniofacial mal-
formations has developed into a multidisciplinary science. This
diversity of focus and interest contributes to the difficulty in
creating a generalized and acceptable approach to classifica-
tions.2 What appears to be an acceptable designation of a par-
ticular anomaly or anatomic defect for a geneticist or syndro-
mologist may fall short for the craniofacial anatomist or
surgeon.5–10 As human genetics and embryology become bet-
ter defined and the etiologic factors at the gene and molecular
level are studied, it is possible that a more exacting classifica-
tion system will be devised.
Section A—Facial Clefting Incidence
The most common congenital facial anomaly is the cleft lip
and palate. The frequency of its occurrence ranges from 0.60
to 2.13 per 1000 births.11,12 Sex, ethnic, and racial back-
grounds influence the incidence of these anomalies. Blacks
have been found to have the lowest incidence of cleft lip and
palate, Caucasians are noted to have a higher incidence, and
Asians have the highest incidence. Cleft lips with or without
an associated cleft palate are seen more commonly in males.
22
Females, however, have a higher incidence of isolated clefts
of the palate.5,6,10
Hemifacial or craniofacial microsomia (also known as the
first and second branchial arch syndrome) is the next most
frequent congenital facial anomaly. The frequency of this
anomaly is estimated to be between 0.18 and 0.33 per 1000
births.5,10,13
The incidence of the remaining craniofacial anomalies is
not well documented because of the very low rate of occur-
rence. A rough approximation of their frequency is in the
range of 0.014 to 0.048 per 1000 births.5,6,14,15
Classified Schemas
The earliest classification schemas of the craniofacial mal-
formations are often identified according to the names of the
authors who first described them, such as Goldenhar, Pierre
Robin, Treacher Collins, and Pfeiffer syndromes.3,4,15–18
Other malformations are identified by their descriptive ap-
pearance and have been given names such as hemifacial mi-
crosomia, retromandibulism, and hypertelorism without re-
gard to their various causes. Other classifications are based
on anatomic topography, with some authors dividing the face
into various regions and others grouping the defects around
the brain, sensory organs, or the branchial arch system. Am-
biguities in terminology and multiple areas of overlap will be
simplified to present an orderly development and working
knowledge of this complex subject.1,4,5,9,10,15
Morian Classification
Morian is credited with the first attempt to classify craniofa-
cial anomalies. In 1886, he described three types of facial
clefts. The type I, or oronasal cleft, described a maxillary cleft
located between the central and the lateral incisors extending
into the nasal region. The type II, an oro-ocular cleft, de-
scribed a maxillary cleft located between the incisor and the
canine teeth that extends toward the orbit. The type III, also
3. Craniofacial Deformities: Review of Etiologies, Distribution, and Their Classification
an oro-ocular cleft, described a maxillary cleft located behind
the canine teeth that extends toward the orbit.5,6,14,15
Degenhardt Classification
Several subsequent classifications were attempted by such au-
thors as Sanvenero-Rosselli, Burian, and others, but it was
not until Degenhardt (in 1961) that a more complete, general
category of craniofacial dysplasias were defined.5,6,14,16,18
Degenhardt describes four major groups of defects: (1) dys-
plasias in the region of the first and second branchial arches;
(2) dysplasias in the region of the premaxilla and the max-
illa; (3) dysplasias of the soft tissues; and (4) craniofacial syn-
dromes.5,14
Degenhardt’s first group of dysplasias of the first and second
branchial archs contains two subgroups: (1) hypoplasias (in-
cluding mandibular dysostosis, oculoauricular dysplasia,
mandibulofacial dysostosis, oculomandibulofacial dysmorphia,
oculomandibulofacial dyscephaly, and oculovertebral dyspla-
sia); and (2) fusion anomalies (synechiae and syngnathia).5,6
In the second group, Degenhardt categorizes dysplasias of
the premaxillary and maxillary regions, which are subdivided
into hypoplasias and cleft formations. The hypoplasias in-
cluded premaxillary hypoplasia (ankyloglossia superior syn-
drome) and premaxillary hypoplasias with other anomalies
(anecephaly and anophthalmia). The cleft malformation sub-
group includes cleft lip and palate with and without associ-
ated malformations, such as frontal encephalocele and ar-
rhinia.5,6
Dysplasias of the soft tissue make up Degenhardt’s third
major grouping. This is subdivided into lateral facial clefts,
macrostomia, and astomia malformations.5
The fourth and last group under Degenhardt’s classification
is a broad classification of craniofacial syndromes. This is sub-
divided into hypoplastic alterations in one region of the neural
and visceral cranium (holoprosencephaly and aprosopia) and
other characteristic syndromes, such as acrofacial dysostosis,
dyscraniopygophalangy, and Crouzon’s disease.5,17,18
Lund Classification
The next major classification was presented by Lund in 1966.
Lund attempted a more comprehensive approach to classify
several craniofacial syndromes, particularly the ocular and
cerebral syndromes. He developed five categories, attempt-
ing to separate cranial dysplasias from facial dysplasias, in-
cluding several transitional forms, reduplications of the head
region, and phakomatoses. The cranial dysplasias, Lund felt,
are primary malformations at the base of the skull, occurring
at the fifth to seventh week of embryological development.
Facial dysplasias were considered to result from disturbances
in the first and/or second visceral arches and their derivatives
at the seventh week in utero.5,6,19
Lund’s theory considered most craniofacial dysplasias to
be multifactorial in origin, with single gene expression play-
23
ing an insignificant role. He relied on the concept that spe-
cific “head organizers” located in the prosencephalic and
rhombencephalic brain developmental regions explained the
diverse combinations of eye, ear, face, skull, and brain
abnormalities.15,19–21
American Association of Cleft Palate
Rehabilitation—Harkens Classification
In 1962, the American Association of Cleft Palate Rehabili-
tation (AACPR) attempted to standardize a classification for
facial syndromes and clefts by endorsing a system proposed
by Harkens and associates. These clefting syndromes are di-
vided into four major groups: (1) mandibular process clefts;
(2) naso-ocular clefts; (3) oro-ocular clefts; and (4) oroaural
clefts. The clefts of the mandibular process include clefts of
the lip, mandible, and lip pits. The naso-ocular clefts extend
from the alar region toward the medial canthus. The clefts of
the oro-ocular group extend externally from the mouth toward
the palpebral fissures and are subdivided into the oromedial
canthal and orolateral canthal clefts. The latter group is on
the temporal extension of the cleft from the lateral canthus.
The last group of clefts, the oroaural clefts, extend from the
mouth toward the ear.5,12,15
The classification, however, has several deficiencies, pri-
marily because it is based on the surface anatomy and does
not integrate the underlying craniofacial skeletal defects. It
also fails to include major midline facial clefts or Treacher
Collins syndrome.5,6,12–15,17,18
Boo-Chai Classification
Boo-Chai noted the deficiencies of the AACPR classification.
In particular, Boo-Chai subdivided the description of the oro-
ocular cleft into types I and II. The Boo-Chai types I and II
clefts both bypass the nose and leave the piriform aperture in-
tact, in contrast to the naso-ocular cleft. The infraorbital fora-
men was used to separate the two types of clefts.5,7,8,11,13,14,21
Morian was the first to distinguish and further describe the
anatomic difference between the clefts and to note the im-
portance of the infraorbital foramen.5,14
In the type I cleft, the soft tissue aspect of the upper lip
differs from a common cleft lip in that it begins lateral to the
Cupid’s bow. The cleft then courses lateral to the nasal alae
into the nasoalar groove and ends as a coloboma in the mid-
portion of the lower eyelid or, alternatively, at the lateral can-
thus. The bony element starts in the region of the bicuspids
and courses lateral to the infraorbital foramen on its way to
the inferolateral portion of the orbit.5
Tessier Classification
It was not until 1976 that Paul Tessier was able to present the
first orderly anatomic classification system for all the estab-
lished craniofacial clefting malformations.17 To simplify the
24 C.R. Dufresne

nomenclature of the clefts, Tessier devised a system in which

a number is assigned to the site of each malformation, based
on its relationship to the sagittal midline. The classification
system is purely descriptive, however, and not related to the
embryological development of the malformation or the un-
derlying pathology. Nevertheless, this system has become
widely accepted because of the ease of recording and sim-
plicity of communicating the various malformations. It also
has been found to correlate clinical appearance with practical
surgical anatomy.17,18,22
The facial clefts, according to Tessier, are basically or-
bitocentric in nature, distributing the involvement through the
soft tissues of the face as well as the skeletal tissues of the
maxilla, mandible, and neurocranium17 (see Figures 3.1 and
3.2) Clefts of the soft tissues and clefts of the craniofacial
skeleton may not always exactly coincide; however, there ex-
ists an intimate relationship between the two structures. The
orbit is the key structure for this classification schema. Its
strategic location separates the cranial skeleton from the fa-
cial skeleton. A horizontal line can then be drawn through the
canthi as an equator to divide the cranial and facial portions
of the cleft. Tessier describes the clefting syndromes as de- FIGURE 3.1 The Tessier classification of craniofacial clefts are rep-
veloping according to constant axes, which are divided into resented here as they appear through the bony framework of the
15 regions, or “time zones,” numbered 0 to 14 across and skull. The system is based on an orbitocentric pattern with the fa-
around the orbit. The facial clefts numbered 0 to 7 are found cial component numbered from 0 to 7, with the exception of the
caudal to the orbital equator, and the clefts numbered 9 to 14 mandible (midline mandibular cleft is designated as a No. 30 cleft).
are found cephalad to the orbital equator. The No. 8 cleft co- The cranial component of the clefts are numbered from 14 to 7 in a
clockwise pattern. The axial pattern when added together totals 14
incides with the equator and passes laterally from the lateral
for the complete form of the cleft as it traverses through the facial
canthus.17,18
to the cranial area.

FIGURE 3.2 The Tessier classification of craniofacial clefts is shown here as they appear through the soft tissues of the face. They follow
the same patterns as that of the bony clefts with the same designation and numbering.
3. Craniofacial Deformities: Review of Etiologies, Distribution, and Their Classification 25

The facial clefts and the cranial clefts can occur indepen-
dently of each other or in combination to form a craniofacial
cleft. Although bilateral representatives of craniofacial clefts
occur, unilateral forms are more common. Multiple craniofa-
cial clefts are also seen in the same individual and have long
been associated with certain syndromes. They need not be
symmetric or of equal severity. Because the cranial and fa-
cial clefts tend to follow the same axis, Tessier incorporated
this concept as the keystone of his classification. Its impor-
tance lies in the analysis and examination of the patient. This
concept forces the clinician to look up and down the axis and
neighboring zones, resulting in the possible discovery of un-
expected or overlooked malformations.
Clefts of the soft tissues and clefts of the craniofacial skele-
ton may not always coincide in severity. The extent of in-
volvement of each component is often quite variable, and as
a rule, the bony deformation is greater in the facial clefts.
Conversely, in clefts medial to the infraorbital foramen, the
defect of the soft tissue tends to be generally greater (with the
exception of cleft No. 3).17,18
The Nos. 0 to 14 clefts of Tessier are median craniofacial
dysraphia (Figure 3.3). This is probably secondary to a de-
fect of closure of the anterior neuropore. The cleft involves
the frontal bone resulting in a median encephalocele, the eth-
moid region (creating a duplication of the crista galli), the
nose (resulting in duplication of the septum and columella),
and finally, the maxilla and lip. Intraorally, a diastema sepa- FIGURE 3.3 An example of a infant with a Tessier No. 0 to 14 facial
rates the central incisors, whereas the palate itself can be cleft cleft with the midline cleft lip and palate, hypertelorism, agenesis of
through the midline. The No. 0 cleft usually results in hy- the midline nasal structures, absence of the premaxilla and philtrum,
pertelorism, whereas if agenesis or hypoplasia is the pre- underlying cranial base defect, and encephalocele.
dominant malformation, a partial or total absence of the
philtrum and the premaxilla can occur. The nose can be flat, Inferiorly, the No. 1 cleft continues through the alveolus be-
side, small, and lacking a columella. The nostrils are intact tween the central and lateral incisors.14,17,18
and laterally displaced. A midline groove in the columella and The Tessier No. 2 appears identical to the No. 1 cleft, but
nasal tip, resulting in a bifid nose, is seen. At the other ex- it is actually more lateral in a paranasal location. There is
treme, a proboscis or arrhinencephaly can be seen with the some question of whether this a true entity of a transitional
resultant orbital hypotelorism, cebocephaly, or cyclopia.17,18 form between clefts No. 1 and No. 3. It traverses the soft tis-
Prolongation of the No. 0 cleft or No. 30 cleft of Tessier sue of the nose between the summit and the base of the alar
onto the mandible could be represented in its most minor form cartilage and then onto the lip. The palpebral fissure is not in-
as a notch in the lower lip, and it can become progressively volved in this cleft. Distortion of the eyebrow occurs just lat-
more severe by involving the mandible, tongue, chin, neck, eral to its medial end point as the cleft continues into the
hyoid bone, and even the sternum. The tongue is frequently frontal region as a No. 12 cleft of Tessier. The location of the
bifid and bound to the mandible by a dense band of tissue. eyebrow coloboma distinguishes this cleft from neighboring
The cleft of the alveolus is located in the midline passing be- clefts. The bony facial skeletal component of this cleft crosses
tween the central incisors. the alveolus in the region of the lateral incisor. The nasal sep-
The Tessier No. 1 cleft is a paramedian, craniofacial cleft tum remains intact, but it may be distorted by surrounding
that traverses through the soft tissues from the cupid’s bow malformations. Septation is present between the nasal cavity
region to the dome of the alar cartilage, resulting in a notch and the maxillary sinus, and notching is seen near the junc-
in the dome of the nostril extending to the medial aspect of tion of the nasal bone with the frontal process of the maxilla.
the eyebrow. If the No. 1 cleft extends more superiorly onto The nasolacrimal system is not disturbed as in the No. 3 cleft.
the frontal bone, it is referred to as the No. 13 cleft. The ol- Enlargement of the ethmoidal labyrinth results in orbital hy-
factory groove of the cribiform plate becomes widened, re- pertelorism. Usually, the glabella is flattened and the frontal
sulting in hypertelorism. The groove or cleft then passes be- sinus is enlarged. The Tessier No. 12 cleft is the cranial equiv-
tween the nasal bone and the frontal process of the maxilla. alent of the Tessier No. 2 facial cleft.14,17,18
26
Tessier believes that nasal hemiatrophy, supernumerary
nostrils, and proboscis lateralis are probably different degrees
and forms of the same paracentral defect. These malforma-
tions may be associated with clefts No. 2 and No. 3 because
of malformations in the ethmoidal labyrinth and the lacrimal
apparatus.
The Tessier No. 3 cleft is a medial orbitomaxillary cleft
that extends through the bony skeleton as a paranasal cleft
traversing obliquely across the lacrimal groove. The frontal
process of the maxilla as well as the medial wall of the max-
illary sinus is often completely absent. The cleft lies in the
area of the embryological union of the medial nasal, lateral
nasal, and maxillary processes. The cleft is believed to result
from a lack of fusion, insufficient mesodermal penetration, or
failure of the nasolacrimal system. Through the soft tissue,
the cleft passes across the lacrimal segment of the lower eye-
lid around the alar base into the nasolabial fold and traverses
the lip and alveolar ridge (Figures 3.4a,b).17,18
The lip and palate deformities associated with the Tessier
No. 3 cleft are located in the same region as the common
clefts of the lip and palate in the Tessier No. 1 and No. 2
clefts. In the nasal area, the Tessier No. 3 cleft changes course
and passes through the base of nasal ala. The mildest form of
this cleft is represented by a coloboma of the nasal ala. The
resultant defect can manifest itself as a distortion or absence
of the frontal process of the maxilla. The vertical distance be-
tween the alar base and the medial canthus is disturbed, and
the nasolacrimal duct is obliterated. Malformations of the oc-
a b
FIGURE 3.4 (a) This young Asian child exhibits a bilateral form of a
Tessier No. 3 to 11 cleft with skin bridges along the lower eyelids, but
with evidence of medial eyelid hypoplasia, lacrimal system involve-
C.R. Dufresne
ular region are usually characteristic of this cleft and include
dystopia of the medial canthus, colobomas of the lower eye-
lid medial to the punctum, and hypoplasic, inferiorly dis-
placed medial canthal tendons. Ocular involvement is vari-
able and may be represented as microphthalmia in its severest
forms. The Tessier No. 11 cleft represents the more superior,
or “northbound,” extension of the cleft into the medial
third of the upper eyelid and eyebrow and then onto the
forehead.14,17,18
The Tessier No. 4 cleft is a median orbitomaxillary cleft
that traverses through the soft tissue Tessier No. 4 cleft almost
vertically to involve the inferior eyelid; medial to the punc-
tum, the infraorbital rim; and the floor of the orbit, medial to
the infraorbital nerve. The cleft continues onto the lip between
the philtral crest and the commissure. Superiorly, the superior
portion continues into the medial third of the eyelid and eye-
brow. As a result of the lateral location of the cleft, the naso-
lacrimal canal and lacrimal sac remain intact. The medial can-
thal tendon appears almost normal with respect to its direction
and insertion. In the most severe forms, the range of anom-
alies can culminate in the development of anophthalmia. The
cleft on the anterior surface of the maxilla passes medial to
the infraorbital foramen and produces a bony defect in the me-
dial portion of the inferior orbital rim and floor. The contents
of the orbit may tend to settle into this fissure, resulting in or-
bital dystopia. In the complete form of the cleft, the orbital
cavity, maxillary sinus, and oral cavity are all confluent. Pos-
terior nasal choanal atresia is often associated with the defor-
ment, and medial maxillary hypoplasia. (b) The skeletal involvement
runs parallel to the soft tissue clefts and is evident as bony defects along
the medial maxilla, palate, orbital floors, and cranial base.
3. Craniofacial Deformities: Review of Etiologies, Distribution, and Their Classification
mity. In bilateral cases, the nose appears smaller than normal,
and the premaxilla is protruded. On the upper facial bony
skeleton, the Tessier No. 10 cleft corresponds to the superior
extension of the Tessier No. 4 facial cleft (Figures 3.5a,b).17,18
The Tessier No. 5 cleft is the rarest of the oblique facial
clefts. This cleft also corresponds to the oculofacial II cleft
and Morian III cleft. The cleft of the lip is found just medial
to the angle of the mouth but not at the commissure itself. It
courses upward across the lateral cheek to and between the
medial and lateral thirds of the eyelid. The vertical distance
between the mouth and the lower eyelid is decreased, result-
ing in a pulling of the upper lid and lower eyelid toward each
other. Microphthalmia is infrequently present. The bony
skeletal malformation parallels the path of the cleft. The alve-
olar portion of the cleft now begins posterior to the cuspid,
and it is found in the premolar region. Passing lateral to the
infraorbital foramen, the cleft enters the orbit through the in-
ferolateral part of the orbital rim and floor. The orbital con-
tents may prolapse into this gap and, therefore, into the max-
illary sinus.17,18
Tessier No. 6 cleft is characteristically recognized as the
incomplete form of the Treacher Collins’ syndrome. The ex-
ternal ears can be normal or almost normal, but a hearing
deficit is often present. The antimongoloid slant of the palpe-
bral fissures is milder, but the coloboma of the lower eyelid
a b
FIGURE 3.5 (a) A newborn infant with a Tessier No. 4 to 10 cleft on
the left and Tessier No. 7 cleft on the right side of the facial struc-
tures. (b) The facial and lower eyelid tissues are very hypoplastic on
the left, and the palate is cleft in line with the soft tissue cleft. There
is widening of the right commissure and a soft tissue deficiency run-
27
occurs at the usual medial third locations. The bony malfor-
mations of this cleft has set it apart from the complete form
of the syndrome. In this cleft, the malar bone is present, but
hypoplastic with an intact zygomatic arch. The cleft runs be-
tween the hypoplastic malar bone and the maxilla in the re-
gion of the zygomaticomaxillary suture.17,18
The Tessier No. 7 cleft is the most common and probably
the earliest recorded craniofacial cleft, having been found in
the cuneiform inscriptions by the Chaldeans of Mesopotamia
in 2000 B.C. The No. 7 cleft is also synonymous with multi-
ple other anomalies, including necrotic facial dysplasia, hemi-
facial microsomia and microtia, otomandibular dysostosis,
unilateral facial agenesis, auriculobranchiogenic dysplasia, in-
trauterine facial necrosis, hemignathia and microtia syn-
drome, lateral facial clefts, transverse facial clefts, and oro-
mandibular-auricular syndrome. Goldenhar’s syndrome is
also comparable in many of its features, but it also involves
epibulbar cysts and vertebral anomalies.17,18
The clinical expression of this cleft varies from a slight fa-
cial asymmetry with minimal auricular malformations to se-
vere malformations of the external auditory canal and the mid-
dle ear ossicles. Tessier believes the cleft is centered in the
region of the zygomaticotemporal suture.14,17,18 Hypoplasia of
the maxilla, temporal bone, soft palate, and tongue has been
seen. The parotid gland and duct can be absent, along with
ning along the axis of the facial cleft to the right ear. There is a left
vertical dystopia and flattening of the frontal bone and hypoplasia
of the cranial base noted on the CT scan corresponding to the bony
skeletal cleft.
28
portions of the mandible and zygoma. The fifth and seventh
nerves can be involved along with their innervated muscula-
ture, represented by weakness of the muscles of mastication
(first branchial arch structures and trigeminal nerve) and mus-
cles of facial expression (second branchial arch structures and
facial nerve). As a result of the hypoplastic maxilla and the
reduced height of the mandible ramus, there is a cephalad cant
to the occlusal plane on the affected side. In the complete form,
the mandibular condyle and ramus can be missing. There may
only be a soft tissue ear tag or a soft tissue cleft extending
from the corner of the mouth toward the ear. As a result of the
hypoplasia of the zygoma, there may be drooping of the su-
perolateral angle of the orbit with lateral canthal dystopia.
The Tessier No. 8 cleft corresponds to the temporal con-
tinuation of the orolateral canthus cleft of the AACPR clas-
sification and the commissural clefts of the ophthalmo-orbital
malformation of Karfik.20 The isolated form of the No. 8 cleft
is rarely seen. The soft tissue cleft begins at the lateral com-
missure of the palpebral fissure and extends toward the tem-
poral region. The lateral coloboma can be occupied by a der-
matocele. The bony elements of the cleft lie in the region of
the frontozygomatic suture. When combined with the No. 6
and No. 7 clefts, the zygoma is absent.5,14,16–18
Tessier has noted a unique bilateral combination of clefts
No. 6, No. 7, and No. 8.5,14,15,17,18 This combination is best
demonstrated by the malformation known as Treacher Collins
syndrome, Franceschetti-Zwahlen-Klein syndrome, or man-
dibulofacial dysostosis. The hallmark of this syndrome is the
absent malar bone, which is the result of these clefts of the
maxillozygomatic, temporozygomatic, and frontozygomatic
sutures.
Soft tissue malformations associated with the No. 6 cleft
result in a coloboma of the lower eyelid and deficiency or
absence of the medial two thirds of the eyelashes. The in-
fraorbital neurovascular bundle frequently exits the orbit and
goes directly into the subcutaneous tissues. The No. 7 cleft
results in the absence of the zygomatic arch, fusion and hy-
poplasia of the masseter and temporalis muscles, otic mal-
formation (resulting in conductive hearing loss), medial
displacement of sideburns, microtia, and mandibular defi-
ciencies. Since the characteristic underlying deformity of the
complete form of the syndrome is the absence of the zygoma,
the lack of bony support results in the eyelid coloboma and
the antimongoloid slant of the palpebral fissure. The No. 8
cleft results in the absence of the lateral orbital rim with as-
sociated lateral canthal dystopia. The abnormal configuration
of the masseter muscle and temporalis muscle results in
changes in the mandible. The vertical dimension of the ra-
mus is foreshortened, producing a retrognathic mandible with
an open bite. Microgenia and the accentuated mandiblar
notch represents the lower third of the facial deficit. This
complex of malformations completes the typical facies of the
syndrome.5,17,18
The Tessier No. 9 cleft is a superolateral orbital cranial cleft
traversing the lateral third of the upper eyelid and superolat-
C.R. Dufresne
eral angle of the orbit. It is the first of the “northbound” cra-
nial counterparts of the facial clefts. This cranial cleft (No. 9)
seems to correspond to facial cleft No. 5, but both are rare.
The cleft is centered in the superolateral angle of the orbit.
This disrupts the orbital rim as the cleft continues into the
frontotemporal cranium.17,18
The Tessier No. 10 cleft is a central superior orbital cleft
located at the medial third of the supraorbital rim, lateral to
the supraorbital nerve. It extends across the roof of the orbit
and the frontal bone. The midportion of the bony orbital rim
and the adjacent orbital roof and frontal bone are cleaved. A
fronto-orbital encephalocele is often found in this area and
results in a laterally and inferiorly rotated orbit. The soft tis-
sue deformity is characterized by the coloboma of the medial
third of the upper eyelid and can occur as a total lack of eye-
lids in its severest form. The eyelid and eyebrow are divided
into two portions, the lateral portion being vertical and join-
ing the scalp hairline and the medial portion being atrophic
or occasionally absent. The No. 10 cleft appears to be the
more superior cranial equivalent of facial cleft No. 4 with both
clefts possibly having a coloboma of the iris.17,18
The Tessier No. 11 cleft is a superomedial orbital cleft. The
coloboma of the medial third of the upper eyelid sometimes
extends to the eyebrow and can extend into the frontal hair-
line. The skeletal malformations of this cleft have not been
identified but seem to be the cranial equivalent of facial cleft
No. 3. The cleft can pass lateral to the ethmoid bone and re-
sult in a cleft in the medial third of the eyebrow and orbital
rim, or it can take an alternative pathway through the ethmoid
labyrinth, resulting in orbital hypertelorism.17,18
The Tessier No. 12 cleft is located medial to the medial
canthus passing through the frontal process of the maxilla and
the nasal bone. This flattening results in telecanthus. The eth-
moidal labyrinth is increased in transverse dimensions, re-
sulting in orbital hypertelorism. The cleft passes across the
lateral mass of the ethmoid and frontal bone lateral to the crib-
riform plate and olfactory groove. The cleft in the soft tissues
extends from the root of the eyebrows and into the frontal
hairline. The cranial equivalent of the No. 12 cleft is facial
cleft No. 2.17,18
The Tessier No. 13 cleft corresponds to the cranial exten-
sion of the No. 1 cleft of the face. The distinctive feature of
this malformation is the widening of the olfactory grooves
and cribriform plate, resulting in hypertelorism. The cribri-
form plate can be displaced inferiorly by the paramedian
frontal encephalocele. The severest forms of orbital hyper-
telorism can result from the bilateral forms of this cleft, when
the ethmoid labyrinth is enlarged and extensive pneumatiza-
tion of the frontal sinus exists. The eyelids and eyebrows are
displaced laterally by the cleft. Another distinct feature of the
cleft is an omega-shaped disruption of the hairline away from
the midline.17,18
The Tessier No. 14 cleft, unlike the No. 0 cleft, is always
associated with hypertelorism. The embryological malforma-
tion is attributed to the formation of the nasal capsule. As a
3. Craniofacial Deformities: Review of Etiologies, Distribution, and Their Classification
result of the morphokinetic arrest of the movement of the eyes,
the orbits tend to remain in the widespread fetal position. The
result is a cranium bifidum or displacement by a large medial
frontal encephalocoele. The crista galli is widened or dupli-
cated, and the distance between the olfactory grooves is in-
creased. The ethmoid bone prolapses caudally because of the
increased intraorbital space. The frontal bone flattens and the
glabella appears indistinct.17,18
This completes the axial dysplasias of the craniofacial syn-
dromes proposed by Tessier. At present, this is the most
widely accepted and used classification among craniofacial
surgeons.
Van der Meulen et al. Classification
In recent years, a group of European plastic surgeons pro-
posed a redefinition of terms and a new classification to fa-
cilitate communication among specialties. This schema also
attempted to avoid confusion among the craniofacial syn-
dromes and embryological pathophysiology. Their classifica-
tion respresents the collective experience of five craniofacial
surgeons (van der Meulen, Mazzola, Vermey-Keers, Stricker,
and Raphael) working in three different countries (Nether-
lands, France, and Italy) (Table 3.1).23
The van der Meulen et al. schema proposes that instead of
a clefting syndrome in the area of the malformation, there is
actually a form of “dysplasia.” Embryologically, regardless
of the cause, an arrest of tissue (skin, muscle, or bone devel-
opment) manifests itself as a “focal fetal dysplasia.” The ul-
timate appearance and severity of the dysplasia depends on
the localization of the area(s) involved and the time at which
the disturbance of developmental arrest occurs (Figure 3.6).24
The van der Meulen et al. classification, the most recent of
the new classifications, attempts to associate the clinical pre-
sentations of the craniofacial anomalies with the pathology aris-
ing from the maldevelopment at the embryological level. Their
proposed craniofacial developmental helix is useful in relating
the clinical and embryological anomalies. New terminology
has also been introduced to explain the morpholopathogen-
esis, but at present, this has only begun to be analyzed and
standardized.5,6,23
Section B—Craniosynostosis
A second major group of congenital malformations that has
been alluded to several times during the discussion of previ-
ous craniofacial classifications is the craniosynostosis anom-
alies. These deformities are not the result of a cleft but a pre-
mature closure of one or more of the cranial sutures. The
severity of the resultant deformity is directly proportional to
the area of suture involved (Figures 3.7–3.10). The range of
facial deformation can be minimal, as a ridge along the sagit-
tal suture or as in a mild trigonocephaly deformity, with the
premature closure of the metopic suture, to severe, as in the
29
TABLE 3.1 Van Der Meulen et al. classification.
Cerebral Craniofacial Dysplasia
Interophthalmic dysplasia
Ophthalmic dysplasia
Craniofacial Dysplasia
Dysostoses
Frontosphenoid dysplasia
Frontal dysplasia
Frontofrontal dysplasia
Frontonasoethmoid dysplasia
Internasal dysplasia
Nasal dysplasia
Type 1—nasal aplasia
Type 2—nasal aplasia with proboscis
Type 3—nasoschizis
Type 4—nasal duplication
Nasomaxillary dysplasia
Maxillary dysplasia
Medial maxillary dysplasia
Lateral maxillary dysplasia
Maxillozygomatic dysplasia
Zygomatic dysplasia
Zygofrontal dysplasia
Zygotemporal dysplasia
Temporoaural dysplasia
Zygotemporoauromandibular dysplasia
Temporoauromandibular dysplasia
Maxillomandibular dysplasia
Mandibular dysplasia
Intermandibular dysplasia
Craniofacial Synostoses
craniofacial dysostosis syndromes as in Crouzon’s syndrome
or Kleeblatschädel deformity in which multiple sutures are
involved (Figure 3.11).1–5,7,8,25,26
Virchow, in 1851, was the first to coin the term cranio-
synostosis and presented an attempt to develop an organized
classification system.4 The word craniosynostosis has been
used recently to describe the process of premature fusion, with
craniostenosis being the result. At present, the terms are in-
terchangeable. There are several different types of cranio-
synostosis (Table 3.2). Craniosynostosis may be either sim-
ple or compound. The simple form refers to the involvement
of the suture being prematurely fused, whereas the compound
form involves synostosis of two or more sutures.1,3–5
Craniosynostosis may also be designated as either a pri-
mary or secondary type. In primary craniosynostosis, the su-
tures prematurely fuse as a result of a genetic predisposition.
In secondary craniosynostosis, suture closure is secondary to
a known disorder, such as one of certain hematologic disor-
ders (thalassemic), metabolic disorders (hyperthyroidism),
and/or malformations (e.g., microcephaly).4
The last category defining craniosynostosis involves sepa-
ration into isolated or syndromic forms. The isolated cranio-
synostosis form is present in patients who have no other ab-
normalites except those that occur secondarily to premature
suture obliteration, such as neurologic or ophthalmologic
manifestations. Syndromic craniosynostosis occurs in patients
with other primary defects of morphogenesis (as in Carpen-
30 C.R. Dufresne

FIGURE 3.6 The van der Meulen et al. classification uses an S-shaped
configuration to represent the embryological development and mal-
formations in the craniofacial helix starting at the lateroposterior wall
of the orbit to the lower face. The upper half of the helix encircles
the orbit while the lower half encircles the mouth. The dysplasias in
the upper half of the S may be associated with ocular and periocu-
lar malformations, clefts, or hypoplasias, while dysplasias of the
lower helix are associated with clefts, malformations, preauricular
tags, pits, and fistulas.

ter’s syndrome, where polysyndactyly and congenital heart 0.4/1000 births to 1.6/1000 births. The former value is con-
defects accompany the craniosynostosis).4,5 sidered the most accurate estimation.1,2,5,10
Three theories have been proposed for the pathogenesis of
craniosynostosis. The first theory, proposed by Virchow,
maintained that craniosynostosis was the primary event and Virchow’s Classification
the associated cranial base deformity was secondary to the
Historically, as in attempts at facial clefting classification,
craniosynostosis. The converse of this theory was proposed
many attempts have been made to group various characteris-
by Moss, who postulated that the cranial base malformation
tics into an organized pattern. These categorizations have re-
was the primary anomaly, resulting in secondary premature
flected the current knowledge, interests, and experience of the
closure of the cranial sutures. A third theory postulates a pri-
classifier. Virchow, in 1851, was the first to classify head
mary defect in the mesenchymal blastema that results in both
shape based on specific sites of cranial suture synostosis as
craniosynostosis and an abnormal cranial base.4,21,25,27
he observed from the examination and measurement of pre-
Regardless of the primary event, the calvarium reflects the
served skulls and not on clinical experience (Table 3.3). He
results of a rapidly expanding brain. With a prematurely
also made an attempt to deal with partial synostosis as well
closed suture, the calvarial growth becomes inhibited in a per-
as with involvement of the cranial base. This anatomic clas-
pendicular direction to the closed suture. This results in a com-
sification was abandoned in time because of the numerous
pensatory overexpansion and growth in the areas of the nor-
narrow categories and as more was learned about the dy-
mal sutures to accomodate the growth of the brain. Since the
namics of craniosynostosis.4–6
midfacial structures are attached to the undersurface of the
cranial vault, alterations in the growth of the anterior cranium
will be reflected on the developing face. The alterations can
be unilateral, as in the distortion seen by the premature clo-
Simmons-Peyton Classification
sure of a hemicoronal suture (plagiocephaly), or bilateral mal- Another proposed classification was put forth by Simmons
formations, such as craniosynostosis of the metopic or sagit- and Peyton in 1947, in an attempt to present a simple and use-
tal sutures or coronal sutures that can also result in severe ful system for the clinician (Table 3.4). Their objective was
midfacial retrusion (Crouzon’s syndrome). to establish important groupings, minimize duplicated termi-
Various estimates of the incidence of simple craniosynos- nology and disregard insignificant narrow or minor varia-
tosis have been made in the literature. The range extends from tions.5,14,15
 a b

c d e

FIGURE 3.7 (a,b) The scaphocephaly deformity can arise secondary to sagittal craniosynos- configuration of the cranium noted by the dotted line. (c,d,e) CT scans demonstrate the three-
tosis. This presents as generalized elongation and narrowing of the cranium. This also re- dimensional cranial contour of the skull with ridging along the course of the obliterated sagit-
sults in a temporal constriction and often a ridging that occurs along the involved sagittal tal suture.
suture. Bossing is noted both anteriorly and posteriorly in the cranium beyond the normal

31
32
a b

c d e

FIGURE 3.8 (a,b) Bicoronal craniosynostosis can be seen in Crouzon’s disease and cranio- tients since the cranial base is often involved. The head is often wide with a decreased an-
cephalic disorders of Karfik-Group D. This represents a typical patient with bilateral coro- terior posterior dimension (brachycephaly) as in this young child with Crouzon’s syndrome
nal synostosis and a “tower skull” deformity with increased cranial height and overincrease demonstrating intracranial “thumbprinting” and class III malocclusion.
in the width of the skull. (c,d,e) Severe midfacial retrusion is also often evident in these pa-
 a b

c d e

FIGURE 3.9 (a,b) Unilateral coronal synostosis results in a plagiocephaly deformity. In this girl with left coronal craniosynostosis. Note the flattening of the left frontal area and supra-
figure, the affected right frontal area is foreshortened, the contralateral frontal area is bossed orbital rim. (e) The CT scan reveals the underlying bone deformity with patency of all the
anteriorly. There is periorbital distortion along the right roof of the orbit and asymmetry around cranial sutures except for the left coronal.
the orbital walls, sphenoid wing, and anterior cranium. (c,d) This clinical example is a young

33
 a b c

d e

FIGURE 3.10 (a,b) Premature closure of the metopic suture results in a secondary trigono- the same deformity as well as a degree of orbital hypotelorism. (e) The CT scan reveals the
cephaly deformity. This results in a triangular deformity of the frontal bone with central patency of the other cranial sutures with the anterior triangular cranial deformity.
frontal bossing (keel) and constriction of the temporal areas. (c,d) The young boy reveals

34
3. Craniofacial Deformities: Review of Etiologies, Distribution, and Their Classification
FIGURE 3.11 The Kleeblatschädel deformity is characteristically a
trilobed cranial deformity as reflected in this case. Multiple cranial
sutures are involved and severely increased intracranial pressure is
evidenced by the cranial “thumbprinting.”
Cohen Classification
As with the complex variety of clefting syndromes, the cran-
iosynostosis syndromes present a formidable challenge to
the embryologist, geneticist, anatomist, and the surgeon. Co-
hen, in an effort to categorize and describe these anomalies,
proposed three specific classifications based on clinical sim-
ilarities, anatomy, pathogenesis, and genetic transmission
(Tables 3.5–3.7).1–5
Tessier Classification
Tessier, in 1981, because of his vast clinical experience put
forth a classification based on involved anatomy and topogra-
phy related to the craniosynostosis as well as other associated
facial anomalies (Table 3.8).25,26 This classification is practi-
cal for the clinician and surgeon because the craniofacial con-
ditions are grouped for surgical purposes. Even though their
genetic classification and ethiology may be different, their
pathogenesis and phenotypes may be very similar. Due to the
limitation of this text, a brief discussion of some of the com-
mon types of craniosynostosis syndromes will be presented.
Crouzon’s syndrome is one of the most common and best
known malformations characterized by premature synostosis
of the coronal suture and, at times, the sagittal-lambdoidal su-
tures. The deformity results in a foreshortened cranial base
35
TABLE 3.2 Types of craniosynostosis.
Type Definition
Simple One suture involved with craniosynostosis
Compound Two or more sutures are involved with craniosynostosis
Primary Craniosynostosis of cranial sutures being the isolated
problem or process
Secondary Craniosynostosis secondary to a known metabolic or
hematologic disorder
Isolated Craniosynostosis is the principal problem or deformity
Syndromic Craniosynostosis associated with other primary defects
of morphogenesis
and a retropositioned frontal bone. The midface is hypoplas-
tic and retruded, and the orbits are shallow, resulting in ex-
orbitism. Mild hypertelorism is also part of the syndrome.
Clinically, the appearance is one of psuedomandibular pro-
gnathism. If the exorbitism is severe, exposure keratitis can
result. The retropositioned soft palate fills the oral and nasal
pharynx and may result in airway obstruction. Intelligence is
usually normal; however, if the malformation is severe, an in-
crease in intracranial pressure can result, with concomitant
secondary effect on cerebration and vision.25,26
Apert’s syndrome, or acrocephalosyndactyly, is an anom-
aly in which the calvarium has a short, broad, tower-like ap-
pearance (turribrachycephaly). The coronal sutures are pre-
maturely synostosed, but the sagittal and lambdoidal sutures
can contribute to the deformity. The face has a high, flat fore-
head with a transverse ridge in the supraorbital region. The
occipital bone is flattened, which contributes to the brachy-
cephalic appearance. The exorbitism is milder than that seen
in Crouzon’s syndrome, although there is a greater degree of
hypertelorism. Divergent strabismus and exophoria are also
present along with some degree of mental retardation. The
TABLE 3.3 Virchow’s classification.
III. Simple macrocephaly (hydrocephaly)
III. Simple microcephaly
III. Dolichocephaly (long-headedness)
A. Upper central synostosis
1. Dolichocephaly (sagittal synostosis)
2. Sphenocephaly (sagittal synostosis with protruding bregma)
B. Lower lateral synostosis
1. Leptocephaly (sphenofrontal synostosis)
2. Clinocephaly (sphenoparietal or temporal synostosis)
C. Fetal synostosis of the frontal suture
1. Trigonocephaly (metopic synostosis)
IV. Brachycephaly (short-headedness)
A. Posterior synostosis
1. Pachycephaly (lambdoidal synostosis)
2. Oxycephaly (lambdoidal and temporoparietal synostosis with
protruding bregma)
B. Upper anterior and lateral synostosis
1. Platycephaly (coronal synostosis)
2. Trochocephaly (partial coronal synostosis)
3. Plagiocephaly (unilateral coronal synostosis)
C. Lower central synostosis
1. Simple brachycephaly (cranial base synostosis)
36 C.R. Dufresne

TABLE 3.4 Simmons-Peyton classification. TABLE 3.6 Cohen’s anatomic/genetic perspectives.

A. Complete, early premature synostosis of the cranial sutures (oxycephaly, Anatomic perspective Genetic perspective
turricephaly) Specific suture synostosed Specific suture synostosed
1. Oxycephaly without facial deformity of primary importance of secondary importance
2. Craniofacial dysostosis of Crouzon Clinical description Overall pattern of anomalies
3. Acrocephalosyndactylism Growth and development Which family members are affected
4. Delayed oxycephaly (onset after birth) Surgical management
B. Incomplete early synostosis of the cranial sutures
1. Scaphocephaly (premature closure of the sagittal suture)
2. Brachycephaly (premature closure of the coronal sutures or to the
coronal and lambdoidal sutures) the thumb and the great toe being broad and directed in a
3. Plagiocephaly (asymmetric premature sutural closure)
4. Mixed
varus direction.
C. Late premature synostosis of cranial sutures after skull has reached In the Saethre-Chotzen syndrome, again, an acrocephalic
nearly adult size so that no deformities and no symptoms result (i.e., configuration of the cranium is present as a result of prema-
nonpathologic requiring no surgical intervention). ture synostosis of the coronal suture. However, the midfacial
hypoplasia is not a feature of this anomaly. The face is asym-
metric with deviation of the nasal septum and with the orbits
midface, again, is hypoplastic with the resultant pseudo- at unequal levels. The frontal hairline is low set with upper
mandibular prognathism. Clefts of the soft palate occur in ap- eyelid ptosis often present. The nose appears beaked, or there
proximately one third of the patients, but invariably, a high- appears to be an absence of the frontonasal angle. The ex-
arched constricted palate is present. The anomaly of the hands tremity anomalies associated with this syndrome result in
and the feet in Apert’s syndrome is symmetric syndactyly of foreshortened digits with a partial cutaneous syndactyly be-
both the hands and the feet, particularly in the middle three tween the index and middle digits.25,26
digits.24,25 In Carpenter’s syndrome, the anomaly results from prema-
The facial features of the Pfeiffer syndrome resemble those ture synostosis of the coronal suture, causing an acro-
of the previously described craniosynostosis syndromes. The cephalopolysyndactyly deformity. When unequal sutural clo-
coronal suture is the primary site of premature synostosis, sures are present, there is an asymmetric tower-shaped skull
resulting in the typical hypoplastic midface with a turri- deformity. This craniosynostosis disorder is characterized
brachycephalic calvarium. The hypertelorism and exorbitism again by the anomalies present, and there is a tendency to
are mild, and the intelligence is normal. The hallmark of the have congenital heart malformations.5,25,26
syndrome is manifested by the digitial anomalies, again with The clover-leaf skull, or Kleeblattschädel anomaly, results
in a trilobed skull. This results from premature synostosis of
varying combinations of the temporoparietal, coronal, lamb-
TABLE 3.5 Cohen’s anatomic classification of craniosynostosis. doidal, and metopic sutures. Hydrocephalus is associated with
Name Premature sutural synostosis this deformity, in addition to a hypoplastic midface with ex-
orbitism. There is a high mortality with this anomaly.
Simple synostosis
Brachycephaly Coronal suture
Dolichocephaly Sagittal suture
(scaphocephaly is also used TABLE 3.7 Conditions with secondary craniosynostosis.
interchangeably) Metabolic disorders
Trigonocephaly Metopic suture Hyperthyroidism
Pachycephaly Lambdoidal sutures Rickets (various forms)
(this term is neither well Mucopolysaccharidoses and related disorders
known nor well accepted) Hurler’s syndrome
Plagiocephaly Unilateral coronal or unilateral Morquio’s syndrome
(some associate this term lambdoidal Beta-glucuronidase deficiency
only with unilateral coronal Mucolipidosis III
synostosis) Hematologic disorders
Compound synostosis Thalassemia
Acrocephaly All sutures Sickle cell anemia
(oxycephaly is also used Polycythemia vera
interchangeably with this term; Congenital hemolytic icterus
some define acrocephaly as Malformations
synostosis of the coronal suture Holoprosencephaly
plus one other suture) Microcephaly
Kleeblattschädel, and Clover-leaf skull deformity and Encephalocele
other terms other combinations of suture Iatrogenic disorders
involvement that lead to Hydrocephaly with shunt
characteristic shapes Malformation secondary to shunt malfunction
3. Craniofacial Deformities: Review of Etiologies, Distribution, and Their Classification
TABLE 3.8 Tessier classification.
A. Isolated cranial vault dysmorphism
B. Symmetric orbitocranial dysmorphism (with or without telorbitism)
1. Trigonocephaly
2. Acro-oxycephaly
3. Brachycephaly without telorbitism
4. Brachycephaly with euryprosopia and telorbitism
C. Asymmetric orbitocranial dysmorphism (plagiocephaly)
1. Pure vertical discrepancy of orbital cavities
2. Plagiocephaly without telorbitism
3. Plagiocephaly with telorbitism
D. Saethre-Chotzen syndrome group
E. Crouzon syndrome group
1. Regular Crouzon syndrome
2. Top Crouzon syndrome
3. Bottom Crouzon syndrome
4. Trilobular Crouzon syndrome
F. Apert’s syndrome group
1. Hyperacrocephalic Apert’s syndrome
2. Hyperbrachycephalic Apert’s syndrome
3. Pfeiffer syndrome
4. Trilobular Apert’s syndrome
5. Carpenter syndrome
The remainder of the anomalies classified and categorized
by Tessier’s schema are extremely rare, and complex malfor-
mations and are not within the scope of this discussion.5,24,25
Summary
At present, no single classification satisfactorily explains all
of the various craniofacial malformations, nor is one univer-
sally applicable to all specialties. The better known, more re-
cent, and more widely accepted classifications have been
briefly presented and discussed. Better classifications have
evolved and are continuing to evolve through communication,
standardization of terminology, and the advancement of the
science of embryology and genetics. It still remains to de-
velop an all-encompassing classification that will clarify the
complex morphopathogenesis of craniofacial malformations.
References
1. Cohen MM Jr. Perspectives on craniosynostosis. West J Med.
1980;132:507.
2. Cohen MM Jr. Craniosynostosis and syndromes with cran-
iosynostosis: incidence, genetics, penetrance, variability and
new syndrome updating. Birth Defects. 1979;15:13.
3. Cohen MM Jr. An etiologic and nosologic overview of cran-
iosynostosis syndromes. Birth Defects. 1975;11:137.
4. Cohen MM Jr., ed. Craniosynostosis—Diagnosis, Evaluation,
and Management. New York: Raven Press; 1986.
5. Dufresne C, Jelks G. Classification of craniofacial anomalies.
In: Smith B, ed. Ophthalmic Plastic and Reconstructive Surgery.
Philadelphia: C.V. Mosby; 1987:1185–1207.
6. Dufresne C. Classifications of craniofacial anomalies. In:
37
Dufresne C, Carson B, Zinreich SJ, eds. Complex Craniofacial
Problems. New York: Churchill Livingstone, 1992:43–74.
7. DeMeyer W, Zemen W, Palmer CA. The face predicts the brain:
diagnostic significance of median facial anomalies for holo-
prosencephaly (arrhinencephaly). Pediatrics. 1964;34:256.
8. DeMeyer W. Median facial malformations and their implica-
tions for brain malformations. Brain Defects. 1975;11:155.
9. Dufresne CR, Corner B, Richtsmeier J. Categorization of
craniofacial dysmorphology for the prediction of surgical out-
come. In: Montoya AG, ed. Craniofacial Surgery: Proceedings
of the Fourth Meeting of the International Society of Cranio-
Maxillo-Facial Surgery. Monduzzi, Italy: 1991:41–43.
10. Gorlin RJ, Cohen MM, Levin SL, eds. Syndromes of the Head
and Neck. 3rd ed. New York: Oxford University Press; 1990.
11. Gorlin RJ, Cervanka J, Pruzansky S. Facial clefting and its syn-
dromes. Birth Defects. 1971;7:3.
12. Harkins CS, Berlin A, Hardings RL, Longacre JJ, Snodgrass
RM. A classification of cleft lip and cleft palate. Plast Recon-
str Surg. 1962;29:31.
13. Poswillo D. The pathogenesis of the first and second branchial
arch syndrome. Oral Surg. 1973;35:302.
14. Kawamoto HK, David JD. Rare craniofacial clefts. In: McCarthy
JG, ed. Plastic Surgery. Philadelphia: W.B. Saunders; 1990:
2922–2973.
15. Rogers BO. Rare craniofacial deformities. In: Converse JM, ed.
Reconstructive Plastic Surgery. Philadelphia: W.B. Saunders;
1964.
16. Sanvenero-Rosselli G. Developmental pathology of the face and
the dysraphia syndromes—an essay of interpretation based on
experimentally produced congenital defects. Plast Reconstr
Surg. 1953;11:36.
17. Tessier P. Anatomic classification of facial, craniofacial and
latero-facial clefts. J Maxillofac Surg. 1976;4:69.
18. Tessier P, Rougier J, Hervouet F, Woillez M, Lekieffre M,
Derome P, eds. A new anatomical classification of facial clefts,
craniofacial and laterolateral clefts and their distribution around
the orbit. In: Plastic Surgery of the Orbit and Eyelids. New York:
Masson; 1981:118–134.
19. Lund OE. Combination of ocular and cranial malformations with
craniofacial dysplasia. Ophthalmologica. 1966;152:13.
20. Karfik V. Proposed classification of rare congenital cleft mal-
formation in the face. Acta Chir Plast. 1966;8:163.
21. Moss ML. The pathogenesis of premature cranial synostosis in
man. Acta Anat. 1959;37:351.
22. Poswillo D. Orofacial malformation. Proc R Soc Med. 1974;67:13.
23. Tessier P. Orbital hypertelorism successive surgical attempts,
material and methods causes and mechanisms. Scand J Plast
Reconstr Surg. 1972;6:135.
24. Van der Meulen JC, Mazzola R, Vermey-Keers C, Sticker M,
Raphael B. A morphogenetic classification of craniofacial mal-
formations. Plast Reconstr Surg. 1983;71:560.
25. Tessier P, Rougier J, Hervouet F, Woillez M, Lekieffre M,
Derome P, eds. The craniofaciostenoses (CFS): the Crouzon and
Apert diseases: the plagiocephalies. In: Plastic Surgery of the
Orbit and Eyelids. New York: Masson; 1981:200–223.
26. Tessier P. Relationship of craniostenoses to craniofacial dysos-
toses and to faciostenoses. A study with therapeutic implica-
tions. Plast Reconstr Surg. 1971;48:224.
27. Moss ML. The primacy of functional matrices in orofacial
growth. Dent Pract Rec. 1968;19:65.