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438
Microform cleft Incomplete cleftComplete cleft 2 alveolus Complete cleft lip & palate
bd
ab
16 History andExamination ofCraniofacial Anomalies
a
Fig. 16.1 Unilateral cleft lip
Table 16.1 Types of cleft lip
Types of cleft Lips Denition
Microform cleft lip It is dened as partial or total cleft of upper lip musculature
Incomplete cleft lip It is termed when cleft involves skin, muscle and mucosa but alveolus is intact
Complete cleft lip and alveolus It involves the skin, muscle, mucosa and alveolus
Complete cleft lip and palate Complete cleft palate with cleft palate
Table 16.2 Types of cleft palate
Types of cleft palate Description
Incomplete cleft Palate Incomplete cleft palates start from back of uvula, extend forward but do not reach up
to alveolar ridge. They vary in length, with some clefts cease before or at the
junction of the soft and hard palates
Complete cleft palate Complete cleft palate starts from back of uvula, extend forward and reach up to
alveolar ridge. In this, alveolar ridge supports the teeth
Submucous cleft Palate There is no visibly open cleft seen on examination but underlying musculature
attached to posterior border of hard palate not in midline
c
Fig. 16.2 Types of cleft
lip and palate. (a)
Unilateral cleft lip with
palate, (b) Bilateral cleft
with palate
Unilateral cleft lip and palate Bilateral cleft lip and palate
(aural) are the main areas affected.
Both the face and the skull may
occasionally be impacted, some-
times affecting both sides of the
face. Goldenhar syndrome, brachial
arch syndrome, facio-auriculo-
16.1 Craniofacial Anomalies
439
vertebral syndrome, oculoauriculo- vertebral spectrum, lateral
facial dysplasia, and maxillary
hypoplasia are other names for
hemifacial microsomia.
– Vascular malformation. It is either
a tumour or birthmark made of
blood vessels that is present since
birth. It may result in issues with
functionality or appearance.
Multiple body systems may be
affected by vascular abnormalities.
Malformations come in a variety of
forms, and they are termed based
on the type of blood vessel that is
most frequently impacted. Other
names for vascular malformations
include vascular gigantism, arteriovenous malformations, and
lymphangiomas.
Haemangioma. A haemangioma is an abnormally
developing blood vessel in the skin that may appear as
a faint red mark at birth or after few months after
birth. A haemangioma is divided into capillary,
cavernous haemangioma and mixed. The capillary
haemangioma is further divided into port wine stain,
strawberry haemangioma, and salmon patch.
Cavernous haemangioma also known as raspberry and
more common in brain, spinal cord and liver
Lymphangioma—Benign lymphatic system
abnormalities known as lymphphangioma can develop
on the skin or mucous membranes. Lymphangiomas
can be classied as congenital or acquired based on
when they rst appear, or as supercial or deep based
on their size and depth
AV malformation—A head and neck arteriovenous
malformation (AVM) is an aberrant tangle of blood
vessels that connects veins and arteries
– Miller syndrome/postaxial acro-
facial dysostosis—Malar bones are
hypoplastic with down slanting pal-
pebral ssure, eyelid exhibit coloboma, cleft lip or palate, cup-shaped
pinna, post-axial agenesis of digit
of hand and feet.
– Nager syndrome/preaxial acrofa-
cial dysostosis—Zygomatic hypoplasia, lower eyelid colobomas,
reduced numbers of eye leashes,
velopharyngeal insufciency,
micrognathia, mild-mental
retardation.
– Hemifacial microsomia/craniofa-
cial microsomia/Goldenhar syndrome—It is a result of variable
degree of hypoplasia of the rst and
second branchial arch and nasal
placode’s structure. It is usually
presenting as underdeveloped one
side of face and may be associated
with unilateral microtia, preauricular tag.
(b) Presentation/chief complaints of con-
genital facial deformities (Table16.3)
Hypernasality—This phenomenon is caused by the
connection of the nasal cavity and oral cavity, which
results in excessive resonance in the nasal cavity
during the production of vowels and vocalic
consonants (i.e. the liquids and glides). Because the
VP mechanism is under more strain, hypernasality
may rise in connected speech.
Nasal air emission—This aerodynamic phenomenon
causes air to be released from the nasal cavity either
audibly or inaudibly when oral pressure consonants
(such as the stops, fricatives and affricates) are
produced. Particularly, if the VP gap is narrow, it may
be audible as nasal turbulence, or nasal rustling.
Airow into the nasal cavities via a palatal stula can
also result in nasal air emission.
Nasal regurgitation—When the food, liquid comes
out through nose while swallowing, it is termed as
nasal regurgitation.
Table 16.3 Presentation of cleft and non-cleft deformities
Presentation of cleft deformities Presentation of non-cleft deformities
Hypernasality, Nasal air emission, Nasal regurgitation,
ear problems, recurrent URI, abnormal opening in
palate or lip, difculty in feeding.
Family history of cleft deformity, antenatal history of
smoking, alcohol, diabetes
Swelling since birth, face deformity, underdeveloped
face, discolouration of skin, long standing swelling
440
16 History andExamination ofCraniofacial Anomalies
(c) Examination
• Local examination—The best method
for identifying cleft palate with headlight and tongue depression is visual
assessment, according to the general
consensus. To get the best view of the
palate, it is best to use headlight and a
tongue depressor.
– Cleft deformities of face—The
primary palate comprises the premaxilla, or everything anterior to
the incisive foramen and secondary palate consists of the hard palate or posterior to the incisive
foramen, soft palate and uvula. A
cleft palate may just be an opening
in palate.
Submucous cleft palate—It
may be identied by the presence of a bid uvula and a notch
at the back of the hard palate. A
very wide or split (bid) uvula.
Translucency of the tissue along
the middle of the soft palate. A
notch in the back of the hard
palate.
Incomplete cleft palate—
When there is a cleft of the soft
palate only and at least some of
the bone portions of the palate is
intact.
Complete cleft palate—When
both soft and hard palate is
involved.
Cleft lip—It may just affect one
side or both sides of lips. It can
range from a small notch to a
wide gap that extends up to nose.
– Non-cleft deformities of face-On
physical examination
Haemangioma—Haemangioma lesions can present with
variable appearance, from a
small red macule to a larger
dome-topped or polypoid papule. The lesions may typically
described as bright cherry red in
colour but may appear more purple in colour over time.
Lymphangioma—It is soft
swelling in deep spaces of head
neck region.
Hemifacial microsomia—
Unilateral facial deformity
(underdeveloped half of face).
2. Nasal congenital deformities
(a) Type of congenital nasal deformities
• Nasal duplication (supernumerary nostril)—Supernumerary nostril is a congenital anomaly in that patient has
additional nostril with or without
accessory cartilage.
• Binder’s syndrome/maxilla nasal dysostosis—Naso frontal angle is absent
and nose is hypoplastic with attened
ala with nostril being half moon
shaped. Frontal sinus hypoplastic,
philtrum is poorly developed, premaxilla is hypoplastic with shortening of the dental arch, anterior
cross-bite.
• Crouzon syndrome—Exophthalmos,
toad-like appearance, hypertelorism
present, parrot beak nose tip, peg
shaped teeth, high arched palate
• Apert syndrome—A hereditary condition called Apert syndrome is typied
by anomalies in the skeleton.
Craniosynostosis, or the early closure
of the skull’s bones, is a major characteristic of Apert syndrome. This early
fusion alters the shape of the head and
face and stops the skull from developing normally.
• Pfeiffer syndrome—Craniosynostosis,
or the premature fusing of several
skull bones, is a characteristic of
Pfeiffer syndrome, a hereditary condition. This early fusion alters the shape
of the head and face and stops the skull
from developing normally. Hand and
foot bones are also impacted by
Pfeiffer syndrome.
(b) Presentation/chief complaints/history
Nasal deformities can be presented as
absence of nose, duplication of nose, triplication of nose, small nose.
16.1 Craniofacial Anomalies
441
Other symptoms—skull deformities,
hand & feet deformities, eye deformities
(c) Examination of patient with nasal
deformities
• Local examination—More than two
nostrils, abnormal nasofrontal angle,
Philtrum, abnormal shape of face and
head, exophthalmos, toad appearance,
hypertelorism, high arched palate,
other anomalies.
3. Congenital jaw abnormalities
(a) Types of congenital jaw deformities
• Pierre Robin sequence—An U-shaped
cleft soft palate, upper airway blockage from glossoptosis and conductive
hearing loss are symptoms of this
prevalent micrognathia presentation.
Feeding can be challenging, and
because the tongue is posterior and
might block the pharynx, and cyanosis
can occasionally occur. While prone
positioning during feeding may be
benecial, nasogastric gavage feedings or a gastrostomy tube may be necessary for disorganized swallowing.
Surgery to adhere the tongue forward
(e.g. stitching it to the inner part of
lower lip) or a tracheostomy may be
necessary if cyanosis or breathing
issues continue.
• Stickler’s Syndrome—It is a collection of inherited disorders characterized by a unique facial appearance,
eye abnormalities, hearing loss, and
joint problems. Affected individuals
exhibit a wide range of these signs
and symptoms. A slightly attened
facial look is a hallmark of Stickler
syndrome.
• Acromegaly—It is a hormonal condition that results in large extremities
and a distinctive facial feature when
the pituitary gland overproduces
growth hormone in adulthood (following the fusion of the epiphysis). In
children, overproduction of growth
hormone increases height and is called
gigantism.
• Mandibulofacial dysostosis/Treacher
Collins syndrome—A genetic condition known as Treacher Collins syndrome (TCS) is characterized by
abnormalities of the chin, cheekbones,
eyes and ears. It can range from mild
to severe. The complications could
include hearing loss, cleft palate,
vision issues, and breathing issues.
• Agnathia—Agnathia is a serious deformity characterized by congenital
absence of the condyloid process and
occasionally the ramus, the coronoid
process, and portions of the mandibular body. The unaffected side becomes
elongated and attened as the mandible deviates to the affected side, causing severe malocclusion. The temporal
bone, parotid gland, masticatory muscles, facial nerve, and other anomalies
of the external, middle, and inner ears
frequently coexist. A severe form of
cerebro-costo-mandibular syndrome,
otocephaly, Ivemark syndrome, and
agnathia-holoprosencephaly are
among the syndromes to be taken into
consideration.
• Maxillary hypoplasia—The Underdevelopment of the maxillary bones,
known as maxillary hypoplasia, results
in midfacial retrusion and gives the
appearance that the lower jaw is protruding forward.
(b) Presentation and chief complaints—
These deformities can be presented as
• Abnormal shape of mandible
• Protrusion of either mandible or
maxilla
• Retrusion of either mandible or
maxilla
• Cleft palate
• Micrognathia, cleft palate and upper
airway obstruction (glossoptosis)
• Maxillary hypoplasia with pseudo protrusion of mandible
• Flattened facial appearance
• Abnormalities of other organs like ear,
palate and eye
442
16 History andExamination ofCraniofacial Anomalies
(c) Local examination
• Dental occlusion—Type 1, 2 or 3
• Asymmetry of mandible
• Other deformities
• Oral hygiene
• Position of tongue
• Drooling of saliva
• Mental status of patient
• Examination of other structures like
ear, nose, head to be noted
4. Congenital ear deformities
(a) Types of ear deformities
• Microtia and external auditory canal
atresia—These two malformations
involve the external ear are frequently
coexist and often identied at or soon
after birth. These malformations presented with conductive hearing loss.
• Low-set ears—Low-set ear is associated with a number of genetic syndromes and positioned below where
ears are typically located on the head.
If the top of the pinna is positioned
below horizontal line that connect the
outer corners of the eyes.
• Ear pits and ear tags—These are
minor anomalies typically located in
front of the ear. The hearing loss and
other congenital anomalies should be
ruled out in patients with ear pits (i.e.
kidney anomalies with ear pits in
branchio- oto-renal syndrome).
(b) Presentation and chief complaint—
Described in Chap. 3
(c) Local examination—Described in
Chap.3
5. Congenital eye diseases
(a) Types of congenital eyes deformities
• Hypertelorism—It is characterized by
widely spaced eyes, as measured by
increased interpupillary distance. This
is present in several congenital syndromes, for example, frontonasal dysplasia (with midline facial cleft, and
brain abnormalities), cranio-frontonasal dysplasia (craniosynostosis) and
Aarskog syndrome (with limb and
genital anomalies).
• Hypotelorism—Hypotelorism is characterized by closely spaced eyes, measured by decreased interpupillary
distance.
• Coloboma—A coloboma is an opening in the structure of the eye that can
affect one or both of the eyes’ iris,
retina, optic nerve, or eyelid. In
Treacher Collins syndrome, Nager
syndrome, and Goldenhar syndrome,
eyelid coloboma is common and often
linked to epibulbar dermoid cysts. In
CHARGE association (coloboma,
heart defects, atresia of the choanae,
retardation of mental and/or physical
development, genital hypoplasia, and
ear abnormalities), cat eye syndrome,
Kabuki syndrome and Aicardi syndrome are all made more likely by iris
coloboma.
• Microphthalmia—A tiny eye globe,
known as microphthalmia, can be
bilateral or unilateral.
• Anophthalmia—Aanophthalmia is a
total absence of the eye globe, occurs
in >50 genetic syndromes caused by
chromosomal anomalies or mutations
in one of several genes (e.g. SOX2,
OTX2, BMP4). The condition known
as cryptophthalmos, which occurs
when the orbit is covered by skin, may
indicate Fraser syndrome, Nager syndrome, or ophthalmia-mental
retardation.
(b) Presentation and chief complaints
• Vision problem like loss of vision,
decrease vision
• Shape of eye or orbit—partial or complete absence of eyeball.
• Abnormal position of globe, Cornea
• Abnormal shape of cornea
(c) Examination
• Vision test
• Other structures to be examined
16.1 Craniofacial Anomalies
443
6. Congenital head abnormalities
(a) Types of congenital head deformities
• Craniosynostosis—It is a disorder
where an infant’s skull’s sutures, or
soft spots, close too quickly. Normal
growth of the brain and skull is disrupted by early closure of skull suture.
An increase in internal head pressure
and a change in the normal, symmetrical appearance of the skull or facial
bones can also result from premature
closure of the sutures.
• Deformational (or positional) plagio-
cephaly—Asymmetrical head shape
caused by repeated pressure on the
same spot known as plagiocephaly.
• Macrocephaly—It is a disorder of
head in which head circumference is
more than 2 standard deviations.
• Microcephaly—It is a disorder of
head in which head is disproportionately small in comparison to the rest of
the body. Numerous chromosomal or
environmental factors can cause microcephaly, such as exposure to drugs,
alcohol, or radiation during pregnancy,
prenatal infections (such as Zika virus
and TORCH [toxoplasmosis, other
pathogens, rubella, cytomegalovirus,
and herpes simplex]) and poorly managed maternal phenylketonuria.
History andExamination ofSkull
Base
17
17.1 Skull Base
1. Clinical anatomy of skull base—The oor of
the cranial cavity that separates the brain from
other facial structures known as skull base or
cranial base. Skull base or cranial base consists
of ve bones ethmoid, paired frontal, sphenoid,
paired temporal bones and occipital bone. It
has two surfaces: endocranial(superior) and
exocranial (inferior) surface. The endocranial
surface faces towards the brain and the exocranial surface towards the nose, sinus and infratemporal fossa. The cranial cavity is divided
into anterior, middle and posterior cranial fossa
so the skull base is divided into anterior, middle
and posterior skull base. The skull base is also
divided into central and lateral parts by two
lines drawn along the medial pterygoid plate.
Anatomically, this region is complex and poses
surgical challenges for surgeons in negotiating
this area (Fig.17.1).
(a) Anterior skull base:
• Anatomy—Anteriorly, it is bounded
by a posterior table of the frontal bone
and posteriorly by tuberculum sella,
anterior clinoid process and lesser
wing of the sphenoid bone. The anterior skull base has three segments, one
middle and two symmetrically placed
lateral segments. The middle segment
of the anterior skull base is formed by
the roof of the nasal cavity (cribriform
plate) and the roof of the ethmoid
sinus (fovea ethmoidalis). The cribriform plate separates the nasal cavity
from the anterior cranial cavity,
whereas the fovea ethmoidalis separates the ethmoidal cavity from the
anterior cranial fossa. The lateral segments separate the intracranial compartment from the orbital contents
(Fig.17.1a).
• Contents/structures
– Orbit—The orbits are bony struc-
tures of the skull that contain the
globe, extraocular muscles, nerves,
blood vessels, adipose tissue and
lacrimal apparatus. The globe is
protected by orbit, and inside the
orbit, it can move in vertical, horizontal and torsional direction. It is
pyramidal in shape and has a roof,
oor and medial and lateral wall. It
is formed by seven bones.
– Cribriform plate—A sieve-like
structure situated between the nasal
cavity and the anterior cranial fossa
is known as the cribriform plate, or
lamina cribrosa of the ethmoid
bone. It is a portion of the ethmoid
bone that supports the olfactory
bulb, which is located in the
olfactory fossa and is connected
anteriorly to the frontal bone, later-
© The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2025
S. K. Kashyap, S. Sagar, Clinical Methods of Otorhinolaryngology, Skull Base & Head Neck
Surgery, https://doi.org/10.1007/978-981-96-1765-4_17
447
448
17 History andExamination ofSkull Base
a b
PG
c
Fig. 17.1 Skull base. (a and b) Cranial view of the skull
base and its division, (c) inferior view of the skull base,
(d) foramens and structures passing, (e) course of ICA, (f)
relationship of cranial nerves with internal carotid artery
within the cavernous sinus, (g) foramen and ssures of
orbit. SOF superior orbital ssure; OC optic canal; IOF
inferior orbital ssure; AEF anterior ethmoidal foramen;
PEF posterior ethmoidal foramen; FO foramen ovale; FL
foramen lacerum; JF jugular foramen; FM foramen magnum; PG pituitary gland; Och optic chiasma; IOF inferior
orbital ssure; ZMS zygomaticomaxillary suture; ZSS
zygomatic-sphenoidal suture; FSS zygomatic-frontal
suture, and fronto-maxillary suture
eal
17.1 Skull Base
449
SOF
HC
d
IN
II N.
III , IV , V , & VI
FR
FO
FS
FL
JF
f
III
IV
VI
CNV
1
FM
ICA
Cavernous
sinus
V2N
V3N
VII & VIII N.
IX. X & XI N.
XII N.
e
Opthalmic
g
artery
Pterygoid Br.
ACP
C5
Foramen
lacerum
ACA
SHA
C7
C6
C4
C3
IHA
MCA
C2
C1
ICA
Dorsum
sella
Menina
hypophys
trunk
Carotid
canal
CNV
2
Fig. 17.1 (continued)
ally to the fovea ethmoidalis, posteriorly to the ethmoidal process of
the sphenoid bone and medially to
the crista galli.
– Fovea ethmoidalis—It is a medial
extension of the frontal bone that
forms the roof of ethmoid. It has
two extensions: medial and lateral,
lateral extension attached to lamina
SS
Sphenoid sinus
papyracea and the medial to lateral
lamella of the cribriform plate.
– Anterior ethmoidal artery—It is
a branch of the ophthalmic artery
that originates in the orbit. It exits
the orbit through the anterior eth-
moidal foramen to enter the ante-
rior ethmoidal cavity and then to
the anterior cranial cavity through
450
17 History andExamination ofSkull Base
the junction of lateral lamella with
the medial process of foveal extension of ethmoidal bone, runs anteriorly and nally enters the nasal
cavity to supply the nose.
– Posterior ethmoidal artery—It is
a branch of the ophthalmic artery in
orbit; it exits through the posterior
ethmoidal foramen to enter into the
posterior ethmoidal cavity.
(b) Middle skull base:
• Anatomy—The middle cranial fossa is
composed of three bones: sphenoid
bone placed in the central part and two
temporal bones in the lateral part. The
anterior boundaries of the middle skull
base from medial to lateral are ridges
forming the anterior margin of the chi-
asmatic groove, anterior clinoid pro-
cesses and posterior margins of the
lesser wings of the sphenoid bone.
Posterior boundaries from medial to
lateral are dorsum sella, the superior
border of the petrous portions of the
temporal bones. Laterally, it is
bounded by temporal squama, sphenoidal angles of the parietals and
greater wings of the sphenoid. The
middle skull base has one central and
two lateral compartments demarcated
by a line drawn from the anterior clinoid process intracranially and along
the medial pterygoid plate extracranially. In between, there is a transition
zone known as the parasellar region.
The contents on the intracranial side
are the pittutary gland, cavernous
sinus, internal carotid artery (ICA),
optic nerve and optic chiasma.
Foramen and ssures through which
structures pass are optic canal, superior orbital ssure and its contents,
foramen rotendum and structure passing, foramen ovale and structure passing and foramen spinosum. The
extracranial contents are the sphenoid
sinus and infratemporal fossa with its
contents (Fig.17.1b).
• Contents/important structures
Contents of the central compartment of middle skull base
Endocranial side or superior side of
the central compartment:
– Sella turcica—The sella turcica is
a midline depression in the roof of
the body of the sphenoid bone that
contains the pituitary gland and distal portion of the pituitary stalk.
The most inferior portion of sella
turcica is known as hypophyseal
fossa which contains the pituitary
gland. Sella turcica has three bony
walls, an anterior wall, a oor and a
posterior wall. Anteriorly, sella turcica is bounded by the tuberculum
sella, posteriorly by dorsum sella
and laterally by cavernous sinus.
Morphologically, three types of
sella turcica, oval, round and at,
have been reported, out of which
the rst two types are more common. The diameter of the sella typically ranges from 4 to 12 mm for
the vertical and from 5 to 16 mm
for the anteroposterior dimension.
– Pituitary gland—The pituitary
gland, a master gland of the body, is
a pea-sized, oval-shaped, ductless
and around 1cm in diameter, housed
within the sella turcica. Superiorly, it
is covered by diaphragma sellae, a
fold of meningeal layer of the dura
with an opening for the pituitary
stalk through which it is connected
to the hypothalamus. On the anterior, inferior and posterior sides, the
pituitary gland is covered by the
periosteal and meningeal layers of
dura mater and on the lateral side by
meningeal layer of dura mater. It has
two lobes, anterior and posterior.
Embryologically, the anterior lobe
(adenohypophysis) is derived from
an outpouching of the roof of the
pharynx known as Rathke’s pouch
and the posterior lobe (neurohy-