CRANIOFACIAL

DEFORMITIES

S.THASLIMA
CRI
CONTENT:-
• Introduction
• Causes
• Stages
• Classification
• Syndromes
• Treatment
INTRODUCTION:-
• Craniofacial (cranio- meaning head or skull + -facial combining form).
• Craniofacial abnormalities are birth defects of the face or head. Some,
like cleft lip and palate, are among the most common of all birth
defects. Others are very rare.
Causes:-
• There is no single factor that causes these
types of abnormalities. Instead, many factors
may contribute to their development,
including:
• Combination of genes:- A child may receive a
particular combination of gene(s) from 1 or
both parents. Or there may be a change in the
genes at the time of conception. This results in
CFA.
• The use of certain medicines during pregnancy
has been linked with certain anomalies.
• Folic acid deficiency:-women who do not take
sufficient folic acid during pregnancy, or have a
diet lacking in folic acid, may have a higher risk
of having a baby with certain congenital
anomalies. These include cleft lip and cleft
palate.
Stages of craniofacial deformities:-

1. Germ layer formation and initial organization of craniofacial structures.

2. Neural tube formation and initial formation of the oropharynx.

3. Origin, migration, and interactions of cell population; Neural Crest Cells.

4. Formation of organ systems; Pharyngeal arches and the primary and secondary
palates.

5. Final differentiation of the facial tissues.

 CLASSIFICATION:-
Orafacial clefting syndromes
•cleft lip and palate
•Pierre-robin syndrom
Craniosynostosis
•crouzon syndrome
•Apert syndrome
•Crounzondermoskeletal syndrome
•Pfeiffer syndrome
•Carpenter syndrome
•Jakson-weiss syndrome
saethre-chotzen syndrome
Branchial arch disorders
•Hemifacial microsomia
Teacher Collins syndrome
•Goldenhar syndrome
•Nager syndrome
•Miller syndrome
oro-facial digital syndrome
Syndromes affecting bone/cartilage
•Achondroplasia
•Cleido-cranial dysplasia
Others
Binders syndrome
CLEFT LIP OR CLEFT PALATE:-
• A separation that happens in the lip or the palate
(roof of the mouth), or both. Cleft lip and cleft palate are the most
common congenital craniofacial anomalies seen at birth.
• Cleft lip and palate are the most common congenital anomalies which
affect the orofacial region. Orofacial clefts are more common in boys
but cleft palate without cleft lip have a slight tendency to involve girls.
One fourth of oral clefts are bilateral and the rest are unilateral. In
unilateral cases the left side is affected more frequently.
CLEFT PALATE:-
Happens when the
roof of the mouth does not completely
close, leaving an opening that can
extend into the nasal cavity. The cleft
may involve either side of the palate. It
can extend from the front of the mouth
(hard palate) to the throat (soft palate).
The cleft may also include the lip.
CLEFT LIP:-
An abnormality in which the lip does not completely form.
The degree of the cleft lip can vary greatly, from mild (notching of the
lip) to severe (large opening from the lip up through the nose).
APERT SYNDROME:-
A craniofacial abnormality characterized by an
abnormal head shape, small upper jaw, and fusion of the fingers and
toes.
BRANCHYCEPHALY:-
A birth
defect characterized by the
disproportionate shortness of
the head. It is caused by a
premature fusing of the coronal
suture. Brachycephaly is
commonly associated with a
number of syndromes, such as
Apert, Crouzon, Pfeiffer,
Saethre-Chotzen and Carpenter.
ENCEPHALOCELE:-
A condition characterized by a protrusion of the
brain or its coverings through the skull.
PFEIFFER SYNDROME:-
A birth defect
characterized by abnormalities of
the skull, hands, and feet. This
syndrome results in wide-set,
bulging eyes, an underdeveloped
upper jaw, and a beaked nose due
to the head being unable to grow
normally.
 CROUZON’S SYNDROME:-
A birth defect characterized by
abnormalities in the skull and facial bones, caused by a fusing of both
sides of the coronal suture. This syndrome often causes the skull to be
short in the front and the back. Flat cheek bones and a flat nose are
also typical of this disorder.
PIERRE ROBIN SYNDROME:-
A birth defect characterized
by abnormalities in the facial bones,
resulting in a smaller-than-normal lower
jaw or receding chin. The tongue often
falls back in the throat, causing difficulty
breathing.
OXYCEPHALY:-
A birth defect characterized by abnormalities in the
skull and facial bones. This syndrome causes the top of the skull to be
pointed or cone-shaped. It is caused by a premature fusing of the
coronal and sagittal sutures. It is also known as turricephaly or high-
head syndrome.
SAETHRE-CHOTZEN SYNDROME:-
A birth defect
characterized by an unusually
short or broad head. In addition,
the eyes may be spaced wide
apart, eyelids may be droopy, and
fingers may be abnormally short
and webbed.
TORTICOLLIS:-

A twisting of the
neck that causes the head to rotate
and tilt at an odd angle. It most
often results from tightness of one
of the neck muscles. Torticollis
often responds very well to neck
exercises. It is also known as wry
neck.
TRIGONOCEPHALY:-
A triangular
configuration of the skull caused by the
premature fusion of the two halves of
the frontal bones at the metopic
suture, which extends down the middle
of the forehead toward the nose.
SCAPHOCEPHALY:-
A long, narrow head shape resulting from early
fusion of the sagittal suture, which runs front to back, down the middle
of the top of the head.
KLEEBLATTSCHADEL SYNDROME:-
A very rare
birth defect characterized by
abnormalities of the skull and facial
bones. It is caused by a premature
fusing of almost all of the fibrous
sutures. It is also called cloverleaf
skull.
CRANIOSYNOSTOSIS:-
A condition in which
the sutures (soft spots) in the skull of an infant
close too early. This causes problems with normal
brain and skull growth. Premature closure of the
sutures may also cause the pressure inside of the
head to increase and the skull or facial bones to
change from a normal, symmetrical appearance.
PLAGIOCEPHALY:-
A Misshapen (asymmetrical) shape of the head
from repeated pressure to the same area of the head. Plagiocephaly
literally means “oblique head” (from the Greek “plagio” for oblique and
“cephale” for head).
DIAGNOSIS:-
• A CT scan
• An MRI scan
• X-rays
Stages of treatment:-
• Surgery to correct the problem.
• Hearing aids.
• Helmet to shape the head of the child.
• Occupational and speech therapy to help you or your child improve
daily activities like chewing, swallowing and speaking
• Orthodontic and dental treatments to improve jaw and mouth issues
TREATMENT:-
• Craniofacial surgery corrects congenital defects of the skull or injuries
to the bone and neck. These procedures require patients to undergo
general anesthesia.
• Innovative surgery for craniofacial malformations and anomalies.
• For certain craniofacial malformations, UPMC surgeons use the
Endoscopic Endonasal Approach (EEA).
• This innovative surgical approach allows surgeons to access the base
of the skull and top of the spine by operating through the nose and
sinuses without making incisions to the face or skull.
Benefits of Endoscopic endonasal Approach (EEA)
:-
No incisions to heal
No disfigurement to the patient
Shorter recovery time.
Endoscopic Endonasal Approach (EEA):-
Pituitary Tumor Removal Using the Endoscopic Endonasal Approach
(EEA) at UPMC
Distraction osteogenesis:-
The aim of this step is to provide an
environment for remodeling and growth of the bone without significant tissue
damage or vascular supply insufficiency.

Types:-
• Maxillary DO
• Mandibular DO
DISTRACTION OSTEOGENESIS:-
• This method increases the length of bone by means of gradual distraction.
Distraction techniques provide circumstances to achieve large advancements in
craniofacial anomalies. Not only lengthening of the skeleton but also distracting
the overlying soft tissue occurs with this technique. Because of this fact, some
prefer to use the term “distraction histogenesis” than distraction osteogenesis.
• Advantages:-
• Advantages of DO include achieving large advancements, obviating bone grafting
and lesser risk of relapse than conventional osteotomies.
• Advantages like decreasing morbidity or reducing scar formation.
• Disadvantages:-
• Higher rates of postoperation infection than conventional osteotomy, difficulty in
control of vector direction, nonunion or malunion of the surgical site are
disadvantages of this method.
 Mandibular DO:-
It is used to correct the
aniofacial anomalies such as Treacher-
Collin’s syndrome, Pierre Robin
equence and hemifacial microsomia.

Maxillary DO:-
Craniofacial syndromes like Apert,
Crouzon or Pfeiffer’s syndromes
show different degrees of
paranasal hypoplasia.
Cranial vault Do:-
Conventional treatment for
patients with craniosynostosis is an
aggressive dismantling of the
cranial vault.
Treatment for cleft lip and palate:-
Stages in management

Management of cleft lip and palate can be

divided into following stages: Stage I-
treatment done from birth to 18 month of age

Stage II- from 18 th month to 5 year of lifel

primary dentition stage)

Stage III-treatment carried out during mixed

dentition stage from 6 to 11th year of life

Stage IV treatment done during permanent

dentition stage (12-18 years)
Problems Associated With Cleft Lip and Palate
• Feeding

• Dental problems

• Nasal Deformity and Esthetic Problems

• Ear Problems

• Speech Difficulties

• Associated Anomalies