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Dentofacial and craniofacial anomalies

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Dentofacial and craniofacial

anomalies
8.1 Congenital anomalies

137

8.2 Orthognathic surgery

140

8.3 Cleft lip and palate surgery

142

8.4 Craniofacial surgery and osteodistraction

142

Self-assessment: questions

144

Self-assessment: answers

145

Overview
Abnormalities of the Jaws, face and cranium may be the
consequence of faulty development or acquired as a
consequence of trauma, tumour, fibrous dysptasia or surgery
for neoplastic disease. Dentofacia! clefting is the most
common of the congenital anomalies but hundreds of others
are recognised. Dentofacial and craniofacial anomalies
frequently require combined orthodontic and surgical
management for their correction.

8.1 Congenital anomalies

Cleft lip is more common in mongoloid races and rare
in Negroes. A family history exists in 12-20% of complete
cleft cases. The gene responsible for the expression of
transforming growth factor beta 3 has been implicated in
human cleft palate. A genetic predisposition to anomalies
such as clefting may reach a threshold after which environmental factors come into play. There is, for example,
an association between the anticonvulsant phenytoin and
cleft disease. Excess vitamin A is similarly associated,
whilst folic acid is important in the prevention of cleft disease. Infections in the mother such as rubella have also
been implicated in cleft formation in the infant.
Cleft lip and palate disease ranges from a submucous
cleft or bifid uvula to complete bilateral cleft lip and
palate. The incidence is given in Box 8.
The craniosynostoses result from premature fusion of
the craniofacial sutures and may arise sporadically when
a single suture is involved or are inherited in the more
complex syndromes. The diagnosis may be made according to the clinical presentation alone or involve molecular
biological techniques to provide a genetic diagnosis now
that access to such testing is more widely available.

Clinical management
Clinical management consists of the following phases:

Learning objectives
You should:
• be aware of the aetiology of congenital abnormalities
• be able to conduct a clinical examination and choose
suitable further investigations
• be able to make a diagnosis and prepare a treatment plan.

1.
2.
3.
4.
5.

history
clinical examination
investigations
diagnosis
treatment plan.

History
It is important to establish what is of concern to the
patient. There may be difficulty in eating or problems

Aetiology
The embryology of the face has been studie...
Dentofacial
and
craniofacial
8.1
Congenital
anomalies
137
8.2
Orthognathic
surgery
140
8.3
Cleft
lip and
palate
surgery
142
8.4
Craniofacial
surgery
and
osteodistraction
142
Self-assessment:
questions
144
Self-assessment:
answers
145
Overview
Abnormalities
of the
Jaws, face
and
cranium
may be the
consequence
of
faulty
development
or
acquired
as a
consequence
of
trauma, tumour,
fibrous
dysptasia
or
surgery
for
neoplastic disease. Dentofacia! clefting
is the
most
common
of the
congenital anomalies
but
hundreds
of
others
are
recognised. Dentofacial
and
craniofacial anomalies
frequently
require combined orthodontic
and
surgical
management
for
their correction.
8.1
Congenital
anomalies
Learning objectives
You
should:
be
aware
of the
aetiology
of
congenital
abnormalities
be
able
to
conduct
a
clinical
examination
and
choose
suitable
further
investigations
be
able
to
make
a
diagnosis
and
prepare
a
treatment
plan.
Aetiology
The
embryology
of the
face
has
been studied
in
detail
and has
provided insight into
the
cause
of
dento-
facial
anomalies. Advances
in
medical
and
dental
genetics
are now
providing
further
insight. Various
growth
factors
induce formation
of
'growth centres',
and
malformation
may
occur because these centres
are
defective
or
there
is a
lack
of
coordination between
them.
Cleft
lip is
more common
in
mongoloid races
and
rare
in
Negroes.
A
family
history exists
in
12-20%
of
complete
cleft
cases.
The
gene responsible
for the
expression
of
transforming
growth
factor
beta
3 has
been implicated
in
human
cleft
palate.
A
genetic predisposition
to
anomalies
such
as
clefting
may
reach
a
threshold
after
which envi-
ronmental
factors
come into play. There
is, for
example,
an
association between
the
anticonvulsant phenytoin
and
cleft
disease.
Excess
vitamin
A is
similarly associated,
whilst
folic
acid
is
important
in the
prevention
of
cleft
dis-
ease.
Infections
in the
mother such
as
rubella have also
been implicated
in
cleft
formation
in the
infant.
Cleft
lip and
palate disease ranges
from
a
submucous
cleft
or
bifid uvula
to
complete bilateral
cleft
lip and
palate.
The
incidence
is
given
in Box 8.
The
craniosynostoses result
from
premature
fusion
of
the
craniofacial
sutures
and may
arise sporadically when
a
single suture
is
involved
or are
inherited
in the
more
complex
syndromes.
The
diagnosis
may be
made accord-
ing to the
clinical presentation alone
or
involve molecular
biological
techniques
to
provide
a
genetic diagnosis
now
that
access
to
such testing
is
more widely available.
Clinical management
Clinical
management consists
of the
following
phases:
1.
history
2.
clinical examination
3.
investigations
4.
diagnosis
5.
treatment plan.
History
It
is
important
to
establish what
is of
concern
to the
patient.
There
may be
difficulty
in
eating
or
problems
Box 8
Incidence
of
dentofacial
clefting
Submucous cleft
Bifid uvula
Isolated
cleft
lip
(either
unilateral
or
bilateral)
Isolated cleft palate
Complete cleft
1:1200
1:100
1:1000
1:2200
1:1800
137
anomalies
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