Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy

CRANIOFACIAL ANOMALIES

www.indiandentalacademy.com

INDIAN DENTAL ACADEMY
Leader in continuing dental education




A normal birth is always regarded as a logical
,natural event. But when for any reason a
deviation occur, the result is very often looked
upon with a sense of fear and horror. This is
specially true when anomaly or deformity is
manifested in the craniofacial region easily the
most visible part of the human body.




The term craniofacial anomalies literally
encompasses all congenital deformities of the
cranium and face.more specifically however the
term has come to imply congenital deformities of
the head that interfere with the physical and
mental well being (Marsh and Vannier 1985 )


Cellular and Molecular Determinants of
Craniofacial Development


The main problem in craniofacial developmental
biology is understanding when, where and how
are genes expressed and how is differential
gene regulation associated with specific pattern
of morphogenesis






During development small “differences”
appear from subtle alterations in the
chemo-mechanical interactions b/w the
nucleus, cytoplasm and the plasma
membrane within each cell , as well as
the ionic and the metabolic
cooperativity b/w individual cells
these differences become enhanced as
the increasing cell division and
positional changes result in more
complex patterns of morphogenesis.






Thereafter these individual differences become
associated as regional aggregates of cells
Determinants for differences allegedly are
localized either
 Within the fertilized egg
 Progressively partitioned as cytoplasmic
determinants
 Represented as small molecular signals with
in or b/w individual cells that mediate
differential gene regulation during
development

Hox homeo box network


patterning of much of the craniofacial region is
laid down by a cluster of genes, the Hox homeo
box network.These are expressed through
patterning of rhombomeres






The structures of the craniofacies are largely
derived from neural crest cells. They undergo
extensive migrations and interactions ; in the
facial region they give rise to almost all the
skeletal and connective tissues
Interaction of crest cells with other cells, with
matrix and growth factors at various locations
along the migratory path, or at their destination
determine the differentiation of the cells.




Failure of neural crest to migrate, inadequate
migration, failure to proliferate during migration,
and premature cell death (necrosis) serve as a
basis for the many syndromes, collectively
known as neurocristopathies


ETIOLOGY









Chromosomal disorders
Single gene disorders
Multifactorial inheritance
Maternal infections in pregnancy
Maternal metabolic derangements
Maternal use of medication
Radiation exposure
Disturbances of embryonic differentiation and
fetal growth

Chromosomal disorders




About 50% of fertilizations lead to a
spontaneous abortion, largely because of a
chromosomal imbalance in the sperm or egg.
The incidence of chromosomal disorders at birth
is 0.5% and most of these are numerical
aberrations caused by non-disjunction at
gametogenesis in either parent.





Eg: Trisomy 21 (Down's syndrome); trisomy 13 ; trisomy 18 ;
Turner's syndrome (45, XO)
Klinefelter's syndrome (47,XXY) ;
XYY syndrome


Single-gene disorders





Since every chromosome contains several
hundreds of thousands of genes, a mutation of a
single gene may cause a variety of
abnormalities.

Incidence - About 1%
Types - Autosomal dominant inheritance
Autosomal recessive inheritance
X-linked recessive inheritance
X-linked dominant inheritance

Autosomal dominant inheritance
The presence of a mutant gene in a patient causes
symptoms irrespective of the presence of a
normal gene at the same gene locus.
 Disorders are clinically manifested in
heterozygotes.
 Homozygotes usually have a very severe
expression as compared to the heterozygous
form, e.g. homozygous (lethal) achondroplasia.






PENETRANCE - percentage of gene
carriers who are identifiable as such by
showing symptoms.
NON-PENETRANCE -percentage of
individuals carrying a gene without
showing any detectable symptoms.




variation of expression in the number
and/or degree of symptoms in a carrier of
the gene frequently occurs and the cause
could be the unpredictability of the
interaction between the normal gene and
the mutant gene.


Age-dependent variation in expressionPolycystic kidney disease
 Huntington's chorea




independent of age –


achondroplasia


Autosomal recessive inheritance


parents of the affected patient are healthy,
but heterozygous (carriers) for a normal
gene A and a mutant gene a. Everyone of
their children, irrespective of its sex, has a
risk of 1 in 4 of being affected
(homozygous aa, for the mutant gene).


X-linked inheritance


Most genes on the x chromosome are
inactivated shortly after conception at the
time of implantation of the female embryo.
This inactivation is irreversible for the cell
and its descendants.


X-linked recessive inheritance
generally heterozygous female does not show
expression of the trait; however, partial
expression in some syndromes has been
described
eg: Aarskog's syndrome
Lowe's syndrome (cataract in females)
otopalatodigital syndrome,


X-linked dominant inheritance



there is clear expression of the gene mutation in
heterozygous female, whereas affected males
may be more severely affected, as in Albright's
hereditary
Eg : osteodystrophy and the Coffin Lowry
syndrome.


Multifactorial inheritance


Many diseases are caused by the combination
of multiple genetic factors, with or without
environmental contributions. The genetic risks in
this model do not follow the simple Mendelian
ratios. Individuals will show a particular
malformation when the combination of these
factors surpasses the developmental threshold
for the process involved.


factors relevant in the analysis and estimation of
genetic risks in multifactorial disorders are





The risk is greatest among first-degree relatives
and decreases with distance of relationship.
The risk to first and second-degree relatives will
be dependent on the population incidence of the
specific malformation
Sex differences in liability may influence the
recurrence risk.






If multiple family members are affected, this will
increase the number of additive risk genes in
that particular family and the recurrence risks
with first-degree relatives
more severe forms of a certain malformation
tend to have greater risks of recurrence,
reflecting the greater liability,


Maternal infections in pregnancy



Viral (rubella,herpes, cytomegaly), parasitic
(toxoplasmosis) and Bacterial (lues) infections
are well-known causes of mostly combinations
of multiple organ maldevelopments.


Maternal metabolic derangements




Inherited or acquired metabolic derangements
jeopardize embryonic differentiation
juvenile diabetes mellitus - fetus has a 2 to 3
times elevated risk of cardiac defects, neural
tube defects, skeletal absence deformities of the
axial skeleton (sacral agencies) etc.






Microencephaly ; cardiac defects and mental
retardation are known risks to infants of mothers
with phenylketonuria

in myotonic dystrophy; when the mother is

affected, her child is likely to show the severe,
neonatal form of the disorder with striking
hypotonia, whereas affected children of affected
fathers show a later onset of the disease


Maternal use of medication




The susceptibility for drug-induced
malformations might be related to maternal or
fetal genetic factors, leading to the production of
toxic substances in certain mothers or fetuses
anticancer drugs acting as antimitotic
agents,antimetabolites or as mutagens may be
one or several mechanism to cause
malformations






anticonvulsants (diphantoin) carry an elevated
risk for developing anomalies.
It was observed (Heinonen et al 1977) that
maternal epilepsy in the absence of maternal
use of antiepileptics may increase the risk of
cardiac defects and facial clefts in the fetus.






Vitamin A and retinoic acid have been
recognized as potent animal and human
teratogens, possibly by their interference with
the development of cranial neural crest cells or
other cellular functions.
spontaneous abortion, craniofacial
malformations (microtia, anotia, maldevelopment
of facial bones and calvaria, cleft secondary
palate), cardiac defects; thymic abnormalities,
hydrocephaly may be seen.




maternal ingestion of high amounts of
alcohol, in early pregnancy, has been
associated with the fetal alcohol
syndrome: with mild mental retardation,
microcephaly, short palpebral fissures,
absence of philltrum, thin upper lip,
elevated risk of cardiac defects and
facial clefting.


Exposure to radiation


Radiation influences cell division and the
integrity of the DNA of the genetic code.
Exposure during pregnancy carries a teratogenic
risk when administrated at relatively high
dosages, as in therapeutic irradiation.


Disturbances of embryonic
differentiation and fetal growth



Amniotic disruption is known to cause
craniofacial clefting and amniotic bands,
together with visceral and extremity defects.




Amnion rupture is known to produce
compression-related malformations, leading to
mechanical postural deformations. Others are
caused by ischemia, resulting in focal
hemorrhage and necrosis of previously normal
tissues affecting the craniofacial complex
(encephaloceles, hydrocephalus, palatal
clefts ) , the vertebrae (spinal bifida), and the
limbs






Oblique facial clefts and constriction ring defects
of the extremities are frequently observed in the
amnion rupture syndrome, together with
amniotic bands.
Vascular disruption causing focal hemorrhage
has been produced in experiments with a linoleic
acid deficient diet, maternal injection with
adrenalin and vasopressin and uterine ischemia
caused by clamping of its vasculature.








Genetics of cleft lip with or without cleft
palatemay occur either as a single malformation, or in
a complex of a syndromal association with
clefting. Syndromal occurrence of CLP is
estimated to represent 3%
Occasional a Mendelian type of inheritance.
Autosomal dominant and X-linked recessive
inheritance has been observed for CP



Classification of craniofacial malformation
(Van der Heulen et al 1983).

CEREBROCRANIAL DYSPLASIA
CERERBOFACIAL DYSPLASIA
CRANIOFACIAL DYSPLASIA
CRANIOFACIAL DYSPLASIAS WITH
OTHER ORIGIN



CEREBROCRANIAL DYSPLASIA






Anencephaly
Microcephaly
Others

CERERBOFACIAL DYSPLASIA



Rhineencepahlic dysplasia
Oculo-orbital dysplasia




CRANIOFACIAL DYSPLASIA


a) With clefting

Latero-nasomaxilary cleft
 Medio-nasomaxillary
 Intermaxillary clefting
 Maxillo-mandibular cleft




b) With dysostosis (craniofacial helix)
Sphenoidal
 Spheno-frontal
 Frontal
 Fronto-frontal
 Fronto-nasoethmoidal
 Internasal














Nasal
Premaxillo maxillary and intermaxillo-palatine
Naso maxillary and maxillary
Maxillo zygomatic
Zygomatic
Zygo-auromandibular
Temporo-aural
Temporo-auromandibular
Mandibular
Intermandibular




c) With synostosis


Cranio synostosis






Craniofacio synostosis






Parieto-occipital
Interparietal
Interfrontal
Spheno-frontopareital
Fronto-parietal
Fronto interpareital

Faciosynostosis






Fronto-malar
Vomero premaxillary (Binder)
Perimaxillary (posterior) (clefting)
Perimaxillary (anterior) (pseudocrouzon)
Perimaxillary (total) (crouzon)



d) With dysostosis and synostosis
Crouzon
 Acro-cephalosyndactaly (Apert)
 Triphyllocephaly (clover leaf skull)




e) With dyschondrosis


Achondroplasia




CRANIOFACIAL DYSPLASIAS WITH OTHER ORIGIN


a) Osseous

Osteopetrosis
 Cranio tubular dysplasia
 Fibrous dysplasia
b) Cutaneous
 ectodermal dysplasia
c) Neurocutaneous
 Neurofibromatosis
d) Neuromuscular
 Robin syndrome
 Mobius syndrome
e) Muscular
 Glossoschizis
f) Vascular
 Haemangioma
 Haemolymphangioma
 Lymphangioma















Anencephaly:
It is due to the absent closure of the neural
tube. characterized by absence of the
vault of the skull. The anterior brain
structures are absent and is replaced by a
spongy vascular mass called
pseduocephaly


microcephaly:
 In this anomaly the brain is reduced in size
and is enclosed in a small skull, whereas
the cerebellum is normal in size .it may be
primary (heredity) or secondary to such
factors such as rubella or toxoplasmosis.




Rhinencephalic dysplasias:
characterized by forebrain malformations
and agenesis of the midline structures of
the face.




Cyclopia: the forebrain fails to divide into

cerebral hemispheres. lateral ventricles are
fused. corpus callosum is absent. Sphenoid is
hypoplastic and there is only one optic canal.
Eyes are fused into a simple orbit. fused
olfactory placodes are marked by a simple
proboscis. All the midline structures are absent




Cebocephaly:
 Cerebral anomalies consist of
holoprosencephaly, absence of the falx,
corpus callosum, olfactory bulbs and
tracts. The optic foramina lie close
together in a common bony canal.
 Facial dysmorphism is characterized by
severe hypotelorism and by
hypodevelopment of the midline
structures. The nose,rudimentary and flat,
encompasses a unique nostril simplified
into a blind pit.



Pre-maxillary aplasia or hypoplasia: 2
types


Type 1 - cerebral anomalies involves

semilobar holoprosencephaly; absence of
olfactory bulbs and tracts. The optic
foramina lies in a common bony canal.
Hypotelorism and wide palatal clefting is
observed. nose is flat and the columella
as well as the philltrum are absent.


 Type

2 - cerebral anomalies vary in

degree and include approximation of the
lateral ventricles. brain development may
be normal. Hypotelorism is less severe, the
nose is flat and palatal clefting is seen. It is
often associated with cardiovascular
malformations.


CRANIOFACIAL DISPLASIAS WITH
CLEFTING


True or primary clefts are caused by the
persistence of epithelium between the borders of
the facial processes, due to deficient epithelial
cell degeneration. Their existence is therefore
restricted to –





latero-nasomaxillary clefting (naso-ocular clefts)
medio-nasomaxillary clefting (cleft lip)
intermaxillary clefting (cleft palate);
maxillo-mandibular clefting - (macrostomia).

Cleft lip and palate






They are one of the most common congenital
anomalies occurring in about 1.97 to 1.23 /1000
in Indians and 2/1000 in mongoloids
In 2/3rd of the cases cleft palate is on the left than
the right side
CL(P) is seen more in male and CP alone more
in females




The pathogenesis is heterogeneous and
multifactorial and is ultimately due to deficiency
of neural crest mesenchyme failing to migrate
and/or proliferate to coalesce individual
embryonic prominences and processes that
combine into the fetal orofacies




Cleft lip results from failure of fusion of the
median nasal ;lateral nasal and the
maxillary processes on either or both
sides.


Reasons
Hypoplasia of the facial processes
 Altered facial geometry
 Defective ability of surface epithelia to participate
in the fusion process
 Excessive cell depth in the fusing palatal seams,
mesenchymal deficiency and post fusion rupture





Thus they can be unilateral or bilateral clefting ;
complete or incomplete , of the lip and/or
primary palate till the incisive foramen




Embryogenesis of the palate involves movement
of the initially vertical palatal shelves lateral to
the tongue into a horizontal supralingual position
with fusion beginning anteriorly and later in the
soft palate. elevation of the palatal shelves
occurs 1week before in females than males




Reasons





Hypoplasia of the palatal shelves
Failure of the palatal shelf elevation at the
correct time due to diminished intrinsic force;
increased resistance mainly by the tongue
position being high.an under developed
mandible also prevents the descent
Excessive head width causing failure of
normal sized palatal shelves to meet







Cleft palate can occur completely or
incompletely involving all or part of the hard
palate and soft palate as far forwards as the
incisive foramen
Submucous cleft- mucosa overlying the palate
appears normal but fusion below has not
occurred
Mandibular clefts – rare and median


Dentofacial relationships in
unoperated cases


Unilateral cleft - nasal septum and columella

is deviated to the non cleft side of facial midline
whereas incisors deviate towards the cleft


In UCLP and BCLP - tendency for the

mandible to be retruded and for the mandibular
plane to be steep with a relatively shorter
posterior facial height and a longer anterior
facial height







Mandibular incisors- labially proclined in UCLA
while lingually inclined in CLP
In BCLP -maxillary intercanine dimension were
much smaller than UCLP and UCLA
In maxillary arch the non cleft segment has a
tendency to rotate forwards hence increasing
the overjet while the cleft side rotates medially
hence edge to edge bite of the canines. Teeth
also tend to roll superiorly hence an openbite on
that side due to infraocclusion

Presurgical orthopedics

1 to 4weeks

Lip closure

8 to 12 weeks

Palatal closure

Speech therapy
Early orthodontics
Alveolar grafting

Pharyngeal flap surgery
Orthognathic surgery
Fixed orthodontics

Repositioning palatal
segments can facilitate lip
repair

May be preceded by primary
lip adhesion as an alteration
to presurgical orthopedics
18 to 24 months
Closing only the soft plate
initially is an alternative but
one stage closure of hard and
soft palate possible
6 to 11 years
Articulation errors develop
after a child tries to
compensate for the cleft
7 –8years
Usually anterior alignment
and maxilla transverse
expansion
6 to 10 years
Needed before the permanent
canines erupt; being
determined by stage and
sequence of eruption
9 to 19 years
Occurrence of nasal air
leakage
17 to 19 years
Maxillary advancement and
mandibular setback
17 to 19 years
Replacement of missing
lateral incisors

Maxillo-mandibular clefting



It is not formed between the maxillary and
mandibular bone but between the facial
processes with the same names.
It is essentially a soft tissue defect affecting skin,
muscle and mucosa, is usually called
macrostomia. It may be unilateral or rarely
bilateral. Its range of malformations varies from
minor elongation of the oral angle to a wide cleft
extending towards the tragal area.



In the majority of cases it is
associated with preauricular
appendages or fistulae that
may be found anywhere
between the angle of the
mouth and the tragus
occasionally also with
temporoaural and/or
mandibular abnormalities.


DYSOSTOSIS


MEDIAN CLEFT FACE SYNDROME/
fronto-nasal syndrome/Internasal
dysplasia


A whole spectrum of malformations may be
observed and the severity of the reported
examples can be graded in a sequence.




At one end is bifidity of the nasal tip or dorsum,
sometimes associated with a median cleft lip
and with duplication of the labial frenulum.
Grooves and folds along the dorsum nasi are
also occasionally observed.




At the other end widely separated nasal halves
and extreme orbital hypertelorism, including
other anomalies caused by frontonasoethmoidal
dysplasia,






Premaxilla may be retarded in development and
bifid, The maxilla may show a keel-shaped
deformity, with the incisors rotated upward in
each half of the alveolar process.
Sometimes a medial cleft of the palate is also
found and this may extend upwards to the
cribriform plate as an inverted V




NASAL APLASIA - characterized by

complete absence of one nasal half. The nasal
cavity is missing and pneumatiziation of the
maxillary ethmoidal and frontal sinuses has
failed . There is no nasolacrimal duct. The
affected half of the maxilla is hypoplastic and the
palatal vault is high and acutely arched .




NASAL DUPLICATION-ranges from a

supernumerary nostril in an otherwise normal
nose to duplication of the upper face
(diprosopia). The supernumerary nostril is
usually the medial one. It may end blindly, be
stenotic or open into a nasal cavity..




In the milder cases there may be one continuous
midline septum, while in the more severe cases
duplication of the anterior part of the septum or
full duplication may be observed


Treacher Collins' syndrome
/Zygomatic dysplasia
/ mandibulofacial dysostosis




caused by a change in a single gene & this
Treacher Collin gene is located on chromosome
5
inherited as an autosomal dominant gene with
complete penetrance but variable expressivity .


Features 







Malar & zygomatic
hypoplasia
Anti mongoloid slant of
the palpebral fissures
Coloboma in the outer
third of the lower
eyelid(75%)
deficiency of eyelashes in
the medial third of these
eyelids
Unusual tongue shape
(25% cases)






Hair extending down & forward from the
temporal region on to the cheek.
flattening of the cheeks
body of the mandible is frequently hypoplastic
and the chin severely retruded.






Radiographs show antigonial notch in the lower
border of the mandible along with hypoplasia of
coronoid & condylar processes.
Cleft palate is found in approximately 30% of the
cases.




posterior maxillary height is
decreased and anterior
height is increased resulting
in a steep anteroinferior cant.
open bite is related to
shortening of the mandibular
rami and premature posterior
teeth contact




deformed external ear,ear tags & pre-auricular
pits,absence of external auditory meatus
frequently accompanied by malformations of the
middle ear


Miller syndrome /
Postaxial acrofacial dysostosis






has resemblance to that of mandibulofacial
dysostosis but there is postaxial limb deficiency.
Malar bones are hypoplastic with downslanting
palpebral fissures.Eyelids may exhibit coloboma
Cleft lip and/or cleft palate are common






pinnae tend to be cup-shaped. The external
auditory canals and middle ears are often
malformed.
Various congenital heart defects have been
documented






Postaxial agenesis of a digit of the hands and
feet is seen
Abnormal thumbs occur in about 50%. The
radius and ulna tend to be short and, in some
cases, there is radioulnar synostosis


Nager syndrome
/ Preaxial acrofacial dysostosis






similar to mandibulofacial
dysostosis. The zygomatic
hypoplasia results in downslanting
palpebral fissures.
The lower eyelids exhibit
colobomas
reduced numbers of eyelashes









External ear defects and cleft
palate are common
Velopharyngeal insufficiency
Micrognathia is usually more
marked
mild mental retardation






thumb is hypoplastic or aplastic and the
anomalies are usually asymmetric
Unilateral radial hypoplasia seen in 50% cases


HEMIFACIAL MICROSOMIA /
Temporo-auromandibular dysplasia

/ Goldenhars syndrome

Facial asymmetry with deviation of the chin
towards the affected side and ear anomalies are
the 'hallmarks' of this entity.




Ear - anotia to an ill-defined mass of tissue that
is displaced anteriorly and inferiorly, to a mildly
dysmorphic ear are found in over 65%.
Preauricular tags of skin and cartilage are
extremely common, and maybe unilateral or
bilateral.






Both the horizontal and ascending ramus of the
mandible may have macrostomia.
malformations are most severe in the condylar
region and less near the middle sector, with
flattening of the gonial angle and accentuation of
the antegonial notch.




Hypoplasia of the maxilla on the affected side is
shown by obliquity of the occlusal plane








A depression and recession of the inferiolateral
angle of the orbit indicates involvement of the
malar bone.
Orbital dystopia may be observed
temporalis, masseter and lateral pterygoid may
be differentially hypoplastic. A fused mass may
be observed on CT scans, containing elements
of each of these muscles.





Aplasia of the levator veli palatini, resulting in
abnormal elevation of the soft palate towards
the unaffected side
parotid gland may be absent,producing a
preauricular concavity.






maxillary, temporal, and malar bones on the
involved side are reduced in size and flattened
Narrow external auditory canals are found in
more mild cases; atretic canals are seen in more
severe cases.






Epibulbar tumors are found in about 35% appear as solid yellowish or pinkish white ovoid
masses; They occur most often at the
inferotemporal quadrant at the limbus.
Blepharoptosis or narrowing of the palpebral
fissure occurs on the affected side in about 10%








Unilateral or bilateral cleft lip and/or cleft palate
occurs in 7-15% of patients
Tooth development tends to be delayed and
missing on the affected side
35% have velopharyngeal insufficiency


CRANIOSYNOSTOSIS







conditions in which one or more sutures close
too early causing problems with normal brain
& skull growth
Occurs 1 in 2000 live births
Affects males twice as often as females
Most often occurs sporadically
Can be inherited as:
Autosomal recessive
 Autosomal dominant



Pachycephaly/ Parieto-occipital





Premature closure of the lambdoid sutures
found isolated, associated with synostosis of the
sagittal suture or as part of multiple synostoses.
It causes hypoplasia and flattening of the
occiput, with slight compensatory development
of the ipsilateral anterior cranial region.


Scaphocephaly/ interparietal


elongated narrow shape of
the skull, resembling the hull
of a ship resulting from early
fusion of the interparietal
sagittal suture






From front, the skull is high and narrow ; from
side,
skull is elongated from front to back with
posterior occipital protrusion and excessive
bulging of the frontal bones anteriorly .


Trigonocephaly / interfrontal




premature closure of the frontal suture. The
frontal area becomes triangular.
extent of skull malformation depends on how
early the synostosis takes place; this usually
occurs during intra-uterine life.






Results in a prominent ridge
running down the forehead
Forehead may look pointed
like a triangle with closely
placed eyes


Plagiocephaly/sphenofrontoparietal




Asymmetric malformation secondary to fusion of
one half of the coronal suture.
Mainly affecting the sphenotemporal suture






Produces flattening of forehead & the brow on
the affected side with forehead excessively
prominent on the opposite side
Eye on the affected side may also have a
different shape


Brachycephaly / frontoparietal




refers to craniofacial dysmorphism secondary to
premature bilateral coronal stenosis
the skull is shortened in the sagittal plane and
compensatory lateral development occurs in
breadth or in height.


Binder's syndrome / Maxillo-nasal
dysostosis




nasomaxillary deformity which mainly affects the
lower part of the nose and the premaxilla
It is due to an alteration of the inferior
mesenchymal portion of the medial strut formed
by the vomer pushing the premaxilla forward.






Nasofrontal angle is absent and the nose is
hypoplastic with flattened alae with nostrils
being half moon shaped
Aplasia of ANS is seen and the frontal sinuses
are hypoplastic








Philtrum is poorly
developed
Premaxilla is hypoplastic
with shortening of the
dental arch
All patients have relative
mandibular prognathism
with anterior crossbite


Crouzon syndrome







The term refers to a typical deformation, but this
anomaly may be due to various causes.
The developmental arrest affects the Maxilla, the
Orbit and the Vault
It is an autosomal dominant condition.
Two genes known to be associated are FGFR2
and FGFR3.




Cranium






Some people have craniosynostosis at birth in
which several sutures are always involved .
A very pronounced bregmatic boss “Clown’s
Hat” may be observed.
The severity of cranial malformations does not
parallel that of face




Eyes –







Exopthalmos, the cardinal sign is constant
eyes give the patient a ‘ toad like ’
appearance. This appearance is due to
hypoplasia of the maxilla, of the malar bone
and of the orbital roof, resulting in the
reduction in the size of the orbital cavities
Divergent strabismus or defective
convergence is frequent
Hypertelorism may be present




Face –








flattened and sometimes concave.
Parrot beak appearance of nose b’coz of
maxillary retrusion.
Dental malpositioning is common, sometimes
with supernumerary or abnormal ‘peg-top’
teeth.
Palate is high, arched, narrow & pointed
nasal root is flat, the dorsum and the nostrils
are wide.




Vision




Lack of skeletal protection may result in
exposure keratitis or even dislocation of the
globe.

Respiration


Constriction of airway may result in chronic or
intermittent respiratory problems.




Five clinical forms seen –


Maxillary Crouzon -minor exorbitism is seen
with severe maxillary retrusion








Pseudo-Crouzon - it
is based on the
combination of
moderate exorbitism
and inferior orbital
retrusion.
prominent forehead
and marked digital
impressions are seen
Occlusion is normal.




facial Crouzon- Retromaxillism with /without
exorbitism in the absence of cranial
abnormalities or with discreet frontal
flattening.
These malformations are due to fusion of the
posterior part of the perimaxillary sutural
system.

With Exorbitism

Without Exorbitism



Cranial Crouzon - a sphenoidal dysostosis
with variable facial involvement
occlusion is mostly normal




Craniofacial Crouzon - Disproportion
b/w minor degree of facial retrusion &
severity of cranial involvement


Apert's syndrome





inherited in an autosomal dominant manner.
The gene involved is FGFR2 (fibroblast growth
factor receptor 2) located on chromosome 10
of those having craniosynostosis, 4-5% have
Apert’s syndrome




In infancy- midline calvarial
defect from the nose to the
posterior fontanelle. The defect is
widely patent during infancy and
only gradually fills in completely
during the third year of life. Bony
islands form within the calvarial
defect












Down slanting palpebral fissures,
strabismus, orbital hypertelorism.
ears may appear low set and
Otitis media is common
Midface deficiency (maxillary
hypoplasia).
Class III malocclusion is present,
with anterior open bite and
anterior and posterior crossbite
Delayed dental eruption







symmetric syndactyly of hands and feet
involving 2nd , 3rd and 4th digits.
fusion of some bones in the neck and
differences in the arms that can be seen on Xrays.
Thumb and big toe may be broader than normal
and deviates radially




palate is high arched; constricted, and has a
median furrow. Lateral palatal swellings
(Hyaluronic acid) are present, which increase in
size with age. The maxillary dental arch is Vshaped with severely crowded teeth and bulging
alveolar ridge




growth pattern is unique.




Length and weight at birth tend to be
increased and head circumference is
approximately normal.
in infancy and childhood consists of a gradual
decrease in height so that most values fall
between the 5th and 50th centiles.


Pfeiffer syndrome










Mostly autosomal dominant
transmission
Main featurescraniosynostosis,broad thumbs,
broad great toes, and soft
tissue syndactyly of the hands
skull is usually
turribrachycephalic.
Craniofacial asymmetry may be
present
Maxillary hypoplasia









Hypertelorism,
downslanting palpebral
fissures,ocular proptosis,
and strabismus are
common
palate is highly arched,
alveolar ridges are broad,
and teeth are crowded
thumbs and great toes are
broad
Mild soft tissue syndactyly


Saethre-Chotzen syndrome





Craniosynostosisis a facultative feature
Brachycephaly or acrocephaly with
coronal sutural synostosis is seen,
producing plagiocephaly and facial
asymmetry
Frontal bossing, parietal bossing, and
flattened occiput with late-closing
fontanels are seen












Low-set frontal hairline is
commonly observed.
Ptosis of
eyelids,hypertelorism, and
strabismus are common
ears may be low set, small,
posteriorly angulated
nasofrontal angle may be
flattened
Maxillary hypoplasia








Oral anomalies include
narrow or highly arched
palate, cleft palate
supernumerary teeth, enamel
hypoplasia
Some degree of
brachydactyly and partial
cutaneous syndactyly is
present


cloverleaf anomaly ,Triphyllocephaly
,T


Characterized by hydrocephalus and a trilobular
skull with synostosis of the lambdoidal and
coronal and metopic sutures, with bulging of the
cerebrum through the open sagittal sutures and
a widely patent anterior fontanelle.




main characteristics






hydrocephaly
Retrusion of orbital roof
exorbitism
maxillary retrusion
severe downward displacement
of ears and zygomatic arches













antimongoloid slanting,
nasal flattening and an
arched palate
Macrostomia;macroglossia
;oblique facial clefting
Iris colobomas and
blindness
Obstructed nasolacrimal
ducts
Absent external auditory
canals

DYSCHONDROSIS
ACHONDRODYSPLASIA-








deficient formation of enchondral bone
transmitted as an autosomal dominant trait.
Height is usually under 1.4 m.
Sort, thick muscular extremities.









The skull is voluminous with a
prominent occiput and a bulging
forehead overhanging a small
impacted nose.
Legs are bowed, hands small
,fingers stubby
Cranial base is shortened.
The alterations predominantly
affect the ethmoidal part and the
cribriform plate








middle third of the face is short.
lower third, which is long and protruding.
The upper lip is shortened and labial
incompetence is associated with buccal
respiration.
Class III malocclusion is seen.


Ectodermal dysplasia






affect series of ectodermal derivatives including
the teeth the sweat glands and the of the
adnexa the skin derivatives(nails, hairs,
setaceous glands).
hypohydrosis,hypotrichosis, hypodontia are the
main characteristics
sex-linked recessive trait. It occurs in males



Main features








Thin hair
Thin and/or small nails
Person cannot perspire and consequently
suffers from hyperpyrexia & inability to endure
warm temp
the midface is retruded due to deficient
alveolar growth. Jaw and facial development
are normal
forehead is prominent and the nose flattened









the skin is thin and dry
with multiple ridges
hairs are scarce and
underdeveloped.
complete or partial
absence of teeth & when
present teeth may be
truncated or cone shaped.
Palatal arch is frequently
high and a cleft palate
may be present.







Forehead is prominent
and nose flattened
xerostomia may be
present.
Hypoplasia of the nasal &
pharyngeal mucous
glands which leads to
chronic rhinitis &/or
pharyngitis, sometimes
associated with dysphagia
& hoarseness.

NEUROFIBROMATOSIS




characterized by neurofibromas or
other neural tumours and by focal
cutaneous hyperpigmentation (cafeaulait spots) caused by aggregation
of melanoblasts in the basal layer of
the epidermis.
derivatives from the neural crest, are
primarily affected.

Skeletal malformations –
 macrocranium,
 interosseous cysts and perforating
defects,
 expansion of the middle cranial
fossa,
 hypoplasia of the sphenoid resulting
in wide areas of communication
between the cranial cavity and the
orbit
 downward displacement of the
zygoma, maxilla and the mandible
on the affected side.

Pierre Robin syndrome






It’s a combination of problems that begins
with Micrognathia .
Causing not enough room for the tongue
to lie flat in the mouth, so it rests at the
back of the mouth (Glossoptosis)
Glossoptosis prevents palate from closing
resulting in Cleft palate



It is a disturbance of muscular maturation of
nervous origin which affects the masticatory
muscles, the tongue and the pharyngeal slings






Retromandibulism is caused by
deficient activity of the
pterygoid muscle, which is
unable to bring the mandible
forward.
Spontaneous improvement is
common owing to progressive
maturation of the affected
muscles and after the 6th
month


Stickler syndrome


It is a connective tissue disorder caused by a
change in one of the 3 genes for connective
tissue.




Features :
 Cleft palate and a small
lower jaw. Of those with
stickler syndrome , 60%
have pierre robbin
syndrome
 Eyes - near sightedness.
 increased risk of cataracts
& retinal detachment.








Hearing loss of some degree
affects around 80% patients.
Joints may be enlarged and
hyperextensible.
About 50% of the affected
people have
Mitral Valve Prolapse (MVP).


Mobius syndrome






involves paralysis of certain facial nerves
(unilateral or bilateral).
Mainly the intra-cerebral nuclear part of the 6th
& 7th nerves are affected.
face is motionless with a characteristic
nasiolabial grin.









Patient cannot do side to side
eye movements, but they will
be able to move them up &
down.
Blinking action may be
difficult
hypoglossia & microstomia
may be seen
skeletal involvement include
clubfoot, missing or webbed
fingers

Vascular Malformations and
Hemangiomas


Causes







Usually sporadic
Can be inherited as an autosomal dominant
trait.
May be a manifestation of many different
genetic syndromes
Females are more often affected


Hemangioma :






A type of birth mark. Most common benign
tumor of the skin.
May be present at birth (faint red mark) or
may appear in the first months after birth.
Also known as port wine stain, strawberry
hemangioma, and salmon patch


Vascular Malformations:




type of birth mark, or congenital growth made
up of arteries, veins, capillaries, or lymphatic
vessels.
Also known as lymphangioma, arteriovenous
malformations, & vascular gigantism
depending upon the type of vessel affected


Hemangiomas
Usually not present at birth
or are very faint red
marks
After birth, they grow
rapidly- often faster than
the child’s growth.
Over time, they become
smaller (involute) and
lighter in colour

Vascular
malformations
These are present at birth.

Enlarge proportionately with
growth of the child.

They do not involute
spontaneously and may
become more apparent as
the child grows.


Velocardiofacial syndrome



autosomal dominant inheritance
Features
 Face -Approx 40% are
microcephalic
 face is long with vertical
maxillary excess malar flatness
and mandibular retrusion.
 nose is prominent with squared
nasal root, hypoplastic alae
nasi, and narrow nasal
passages








Adenoids are hypoplastic
Narrow palpebral fissures
with blue suborbital coloring
occurs
Small ear auricles and minor
thickening of the helical rims
have been seen
Multiple cardiac anomalies
are present in over 80%,
especially VSD






Cleft palate (35%), submucous cleft palate
(33%), and occult submucous cleft palate or
velar paresis (33%) resulting in hypernasal
speech have been found in nearly all patients
Class I malocclusion is common .The pharynx is
hypotonic


Cleidocranial dysplasia






autosomal dominant inheritance
individuals are usually short
skull is brachycephalic, with pronounced frontal
and parietal bossing.
maxilla and zygomas are hypoplastic.







skull is large and short
Closure of the anterior fontanel and sagittal and
metopic sutures is delayed,
Secondary centers of ossification appear in the
suture lines, and many Wormian bones are
formed








Delayed union at the mandibular symphysisis
characteristic.
nose is broad at the base, with the bridge
depressed.
neck appears long, and the shoulders are
narrow and droop markedly






Clavicles are absent unilaterally or bilaterally
variations in size, origin, and insertion of
muscles related to the clavicles, especially the
sternocleidomastoid,trapezius, deltoid, and
pectoralis major






palate is highly arched. Submucous cleft of
palate and complete cleft of the hard and soft
palates is seen
Development of the premaxilla is poor with
relative prognathism






multiple supernumerary teeth
Multiple crown and root abnormalities, crypt
formation around impacted teeth, ectopic
location of teeth, and lack of tooth eruption


CFA TEAM


It is agreed worldwide that management of
patients with CFAs is best provided by a
multidisciplinary team of specialists.









plastic /craniofacial surgeon
Neurosurgeon
Pediatrician
Orthodontist
Pediatric dentist
Speech & language specialist
Otolaryngologist
Audiologist







Opthalmologist
Genetic councellor
Nurse team coordinator
Social worker
Psychiatrist






The surgeon and the orthodontist plan at the
very beginning for diagnosis and treatment
planning .
A detailed treatment plan should be written,
including a specific definition of what orthodontic
teeth movement is to be done prior to surgery;
how the orthodontic appliance will be used for
surgical fixation; and what orthodontic tooth
movement will be required to finish the case
following surgery.




The efficacy of orthodontic and orthopedic
treatment in case of craniofacial anomalies
depend on the type of deformity, taking mainly
into consideration the growth potential.


Presurgical orthodontic treatment





The main objective of this stage is to arrange the
teeth so that they will approximately fit when the
arches are surgically moved
Continuous arch wire technique
Segmented arch technique




Continuous arch wire technique



Used for total maxillary surgical procedures.
progressively the size of the arch wires is
increased to achieve final stability in the postsurgical occlusion. If .018 slot is used, the
minimum size of arch wire for a total maxillary
surgical splint is .016x.022 without palatal
splinting and .016x.016 if acrylic or metal
palatal splinting




Segmented arch technique



used in preparation for a segmented surgical
procedure.
orthodontic treatment time is shortened
because alignment of each segment is done
without being concerned about the
relationship of the segments to each other.




Disadvantage- when surgical suspension
wires are used inadequate fixation will allow
the crowns of the segments to be buccally
torqued, causing posterior buccal overjet and
open bite


Post surgical orthodontic treatment


Involves various final adjustments in the occlusal
relationships and the final tooth alignment. This
final phase usually lasts form 3 to 4 months


Transverse Maxillary Deficiency


3 main factors should be considered

amount of arch length discrepancy In

moderate to minimal space deficiency,
RME will increase arch circumference
sufficiently to permit alignment of the
crowded anteriors without the necessity of
extraction of premolars



arch morphology Cases

in which a transverse deficiency
exists will exhibit a narrow, tapering arch
form. The discrepancy will be most
pronounced in the canine region.

 If

nonextraction orthodontic therapy is
decided lateral maxillary osteotomies and
rapid maxillary expansion is the treatment
of choice to achieve proper arch
morphology





Cases which do not exhibit severe constriction in
the anterior region, a two-piece maxillary
procedure with a midline osteotomy and resultant
diastema may be done

consideration to wound healing after creation of
an interincisal space should be done. When
excessive the gingiva may detach and
interproximal bone may be exposed with a
possibility of devascularization and osteonecrosis
of the underlying bone



vertical dimension In cases exhibiting an anterior open-bite
with a severely accentuated maxillary curve
of spee ; orthodontic treatment by extrusion
of incisors and/or intrusion of posterior
teeth may compromise the postsurgical
stability. Segmentalized orthodontic therapy
with a three-piece or four-piece maxillary
surgical procedure is indicated


True Unilateral Transverse Maxillary
Deficiency


should be treated by maxillary segmental
surgery with the osteotomy mesial to the most
anterior tooth in palatal cross-bite. Orthodontic
management of such patients will depend upon
the necessity of extractions for alignment of
crowded anterior teeth.




In some cases the apparent maxillary deficiency
may be due to the ectopic eruption of one or two
posterior teeth in one quadrant and be treated
by orthodontic means


Transverse Maxillary Excess




Seen mostly in cases with skeletal class II
The aim of presurgical orthodontics in these
cases is to position the malaligned teeth over
their bases so that the maxilla can be surgically
positioned into a satisfactory overbite-overjet
relationship




Many technical modifications of the Le Fort I
osteotomy are feasible to facilitate simultaneous
anteroposterior, vertical, or horizontal
movements of the anterior and posterior
segments of the maxilla.


Hemifacial Microsomia




Harvold advocates the use of activators to
guide eruption of teeth and prevent midline shift
until the time of surgery. This approach may
have a stimulator effect on muscle development
and serves to prevent canting of the occlusal
plane.
conventional orthodontic tooth movement is of
little value




In a cephalometric study by Bachmayer, Ross
and Munro (AJO 1986) on maxillary growth
following Le Fort III osteotomy in children with
Crouzon-Apert Pfeiffer (CAP) syndromes it was
found that the maxillary growth after surgery is
negligible.
Vertical maxillary growth following surgery is
identical to that in unoperated CAP and normal
children, amounting to 1.3 mm/yr.




Olow-Norderam and Thilander (AJO 1989)
studied the influence of orthodontic treatment on
Binder's syndrome .
Although the orthodontic treatment led to
acceptable dental conditions in some patients,
no influence on craniofacial growth could be
demonstrated.




Graysun et al ( AJO 1983) in a study on
unilateral craniofacial microsomia said that the
lateral ceph analysis of patients with unilateral
craniofacial microsomia confirmed the clinical
impression of an increased gonial angle and
decreased ramal height and body length on the
affected side.






The ramal height on the unaffected side was
also decreased. The mandibular plane angle
was greater than normal on both affected and
unaffected sides.
They conclude that the unaffected side too is
characterized by abnormalities in the skeletal
anatomy.




Schudy ( JCO 1986) described the surgical
correction of Crouzon's and Apert's syndromes
by Dr. Paul Tessier.
The orthodontic treatment involves no special
procedures and is performed in the usual
manner. Good arch forms were established for
the prospect of good future occlusion before the
surgery was performed. After the surgery was
done brackets remained on for a further 24
months to improve the occlusion


Skeletal Mandibular Deficiency.


3 types of dentoalveolar problems that
require orthodontic treatment often
accompany it –




Malalignment of the teeth ie: crowding or
protrusion. Most of these are dental
compensation for the skeletal deficiency
crossbite tendency appears as the mandible
is advanced.



Deep bite, with an accentuated curve of Spee
due either to elongation of the mandibular
incisors or due to vertical under development
of the premolar segment of the arch.


Distraction ostegenesis.




specially effective in cases of unilateral
mandibular deficiency
involves the deliberate fracturing of the bone
side and holding it in close but not exact
approximation by means of a complex system of
extra oral positioners




Principle- osteogenesis takes place in the

intervening space. As soon the bone formation is
complete the set up is adjusted so that the bone
segments move a bit away from each other. The
bone segments are held in that place till new
bone is formed and so forth, till the bone
achieves the required length.




General principles of treatment





Orthodontic intrusion of teeth must be done
prior to surgery.
Extrusion of teeth can be done following
surgery.
tooth movement in the transverse or crossbite
plane of space can be deferred until after
surgery.




Tooth movement that occurs immediately after
surgery, while the patient is in IMF but before
bone healing occurs should also be considered.
Orthodontic tooth movement takes place to
maintain the dental relationship. The mandibular
dentition slips forward on the mandible (2mm)
increasing the prominence of the lower incisors.
The maxillary dentition is retracted, decreasing
the prominence of the maxillary incisors.




Moving teeth laterally for crossbite correction
introduces interferences along the line of the
cusps and leads to some lengthening of the
posterior vertical dimension and a downward
positioning of the mandible.



desirable - skeletal deep bite
undesirable - steep mandibular plane angle


Orthodontic Procedures To Be Avoided
Prior To Surgery For Mandibular
Deficiency.


use of Class II intermaxillary elastics to
reduce overjet



produces forward positioning of the lower
incisors.
will cause vertical extrusion of the anterior
maxillary segment, tending to extrude teeth


Mandibular excess




characterized by a prominent lower third of the
face.
orthodontic treatment modalities Chin-cap therapy
 Activator appliances
 Fully banded orthodontic appliances.


Chin-cap therapy


the pressure against the chin would be
transmitted to the growing areas of the
mandible and the growth would be impeded
or at least directed more favorably.




two approaches



impede mandibular growth by applying heavy
pressure in the vicinity of the growing condyle
of the mandible. The force is applied upward
and backward, opposite to the vector of
downward and forward mandibular growth.
redirect the growth of the mandible. It is
based on the principle that when the mandible
is rotated downward it rotates backward.


Activator appliances:




effective in the treatment of class I I I
malocclusion using a class III activator causing a
downward and backward displacement of the
mandible.
It may be trimmed to allow posterior teeth to
erupt so that the vertical dimension is
maintained

Fully banded orthodontic appliances


can only be carried out satisfactorily without
surgery only when the problem is minor,
because it is very difficult to position mandibular
teeth so as to camouflage the mandibular
prominence.


CONCLUSION


Although craniofacial anomalies have
been reported and depicted from ancient
times; a team approach to diagnosis ;
management and treatment of dysmorphic
patients is a recent event. understanding
of normal and pathogenesis helps us
diagnose and treat to the best of our
capabilities…..

Leader in continuing dental education


Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy

Empfohlen

Empfohlen

Weitere ähnliche Inhalte

Was ist angesagt?

Was ist angesagt? (20)

Andere mochten auch

Andere mochten auch (16)

Ähnlich wie Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy

Ähnlich wie Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy (20)

Mehr von Indian dental academy

Mehr von Indian dental academy (20)

Kürzlich hochgeladen

Kürzlich hochgeladen (20)

Craniofacial anomalies /certified fixed orthodontic courses by Indian dental academy