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Developmental disorders of

orofacial structures

Orofacial Clefts

Cleft Lip (CL)


Cleft Palate ( CP )
Cleft Lip with Cleft Palate (CL + CP)
Lateral Facial Cleft
Oblique Facial Cleft
Median Cleft of upper lip
Median Maxillary anterior alveolar cleft.

Etiology
Genetic abnormalities
Inherited
Spontaneous mutation

Environmental factors

Nutritional Deficiency
Cigarette smoking
Drugs, radiation.
Amniotic bands

Cleft Lip and Palate


Most common among the facial clefts.
Cleft is a division or separation of parts of
the lip or palate that is formed during the
early months of development of the fetus.
Clefts may be unilateral or bilateral.
They can vary in severity.
3-8% of clefts are associated with
syndromes

Unilateral incomplete cleft lip

Unilateral Complete Cleft lip

Bilateral Complete Cleft Lip

Frequency of Occurrence
In whites,CL CP occur in 1 of every 700-1000
births
In Asians,prevalence is 1.5 times higher.
In African Americans,less than 0.4 in 1000.
in Native Americans fequency is 3.6per 1000birth
Incidence of clefts is highest in Native American
population and lowest in African Americans

Frequency of occurrence

Isolated Cleft Lip :


25%
Isolated Cleft Palate : 30%
Cleft Lip + Cleft Palate : 45%
CL CP : more common in males.
For isolated CL , M : F = 1.5 : 1
For CL + CP, M : F = 2 : 1
Isolated CP is more common in females.

Location
Cleft Lip is more commonly unilateral
(80%)
70% of cleft lips on left side.
Complete CL extends upward into nostril.
CP may involve hard and soft palate or soft
palate alone.
Cleft or Bifid Uvula is more common.

Bifid Uvula:
Whites: 1 in 80
Asian and Native American: 1 in 10
African Americans: 1 in 250
Submucous palatal cleft : surface mucosa is
intact but underlying musculature of soft
palate is defective.

Complete cleft palate

Bifid uvula

Submucous palatal cleft

Pierre Robin Syndrome


Triad of :
Mandibular micrognathia
Glossoptosis
Cleft Palate.

Bird facies

Problems associated with clefts

Esthetic disfigurement
Difficulty in breathing ,feeding and speech
Malocclusion.
Psychosocial problems.
Recurrent upper respiratory tract infections.

Treatment
Multidisciplinary approach
Plastic surgery,
Dentistry,Otolaryngology,Audiology,speech
pathology,Genetics and Pediatrics
SURGICAL REPAIR.

Cleft lip repair


Objective: Closure of cleft to create a
pleasing face that will develop normally
with minimum scarring
Performed by plastic surgeon when baby is
approx. 3 months of age and weighs atleast
10 lbs.

Surgery under GA( takes approx 2-3 hours)


Special considerations in positioning and
feeding.
Takes approx. 3 weeks for the wound to
gain enough strength.
The lip scar is initially red and swollen but
begins to mature and improve in appearance
in 6-12 months.
In Bilateral cleft lip , repair in stages.
In alveolar cleft, bone graft required ( 5-10
yrs)

Cleft palate repair


Objective: To close the palate to restore
normal function of eating and drinking and
to enhance the development of normal
speech.
Best accomplished in one surgical
procedure before the child reaches 12-14
months of age.

Pierre Robin syndrome


Infant placed in prone position until
adequate growth of jaws occur.
Tongue- Lip adhesion/Tracheostomy
Mandibular bone expansion- Distraction
Osteogenesis with an expansion device.

Distraction osteogenesis

After removal of the expansion device

Late cleft treatment

Cleft palate surgery


Intensive speech therapy regimen
Orthognathic surgery.
Orthodontic correction.

Genetic counseling
In Non syndromic cases, risk of
Cleft development in a sibling or
offspring is 3-5% if no other first
degree relative is affected. It
increases to 10 20 % if another
first degree relative is affected

Developmental disorders of Lips


Lip Pits:
Para median Lip Pits
Commissural Lip Pits

Double Lip

Paramedian Lip Pits


Rare
Autosomal dominant
inheritance
Persistence of lateral
sulci on embryonic
mandibular arch
Bilateral symmetric
fistulas on either side
of the midline

Paramedian Lip Pits


Appearance varies from
subtle depressions to
prominent humps.
Pits can extend to a depth
of 1.5 cm and may express
salivary secretions
Seen in Van der Woude
syndrome with CLCP
Surgical excision for
cosmetic reasons

Commissural Lip Pit


Small mucosal
invaginations at
corners of the mouth
on vermilion border.
Failure in the normal
fusion of maxillary
and mandibular
processes during
development

Commissural Lip Pit


Seen in 12-20 % of
adult population.
Males > Females
Unilateral / Bilateral
May be associated
with preauricular pits
No treatment required

Double Lip
Rare
Redundant fold of
tissue on the mucosal
side of the lip.
May be Congenital or
acquired( from trauma
or oral habits such as
lip sucking)

Double lip
More common in
upper lip
Sometimes both
lips affected
Seen on smiling.
Feature of Aschers
syndrome

Aschers syndrome
Triad of :
Double lip
Blepharochalasis
Nontoxic enlargement of thyroid gland

Developmental disorders of tongue

Macroglossia
Microglossia
Ankyloglossia
Lingual Thyroid
Median Rhomboid glossitis
Benign Migratory glossitis
Hairy Tongue
Bifid tongue
Fissured tongue
Lingual Varices

Macroglossia

Causes
Congenital:

Acquired:

Haemangioma
Lymphangioma
Cretinism
Down syndrome
Beckwith Weidemann
Syndrome
Neurofibromatosis
Hemi hyperplasia

Amyloidosis
Myxoedema
Acromegaly
Angioedema
Carcinoma and other
tumours
Edentulous state

Differentiating features

Cretinism and Beckwith Weidemann Syn:


Smooth, diffuse generalized enlargement
Lymphangioma:
Pebbly appearance with multiple vesicle
like blebs
Amyloidosis, Neurofibromatosis:
Multinodular appearance

Differentiating features
Down Syndrome:
Papillary fissured surface
Hemifacial Hyperplasia,
Neurofibromatosis:
Unilateral enlargement
Edentulous:
Lateral spreading of tongue.

Microglossia

Oromandibular- limb hypogenisis syndrome


Frequently Seen along with hypoplasia of mandible

Ankyloglossia
Anomaly characterized
by short thick lingual
frenum resulting in
restriction in tongue
movement.
Sever case tongue fused
to floor of mouth
Frenum some time
attached to tip of the
tongue

Ankyloglossia
Seen in 2-5 % of the
population
Males > Females
May be partial or
complete
May cause speech
defects.
Surgery if the
anomaly is severe

Lingual Thyroid-origin
Failure of primitive
thyroid gland to
descend into the neck
during development.
About 10 % of both
men and women may
show thyroid tissue if
biopsy is taken from
posterior part of
tongue.

Lingual Thyroid-Clinical features


Symptomatic and
clinically evident
lingual thyroid seen
less commonly.
4 - 7 times more
common in females
May cause dyspnoea,
dysphonia, dysphagia

Lingual Thyroid-Diagnosis
In 70% of cases this
ectopic gland is the
patients only thyroid
tissue.
Thyroid scans using
Iodine isotopes or
technetium 99m
CT and MRI to know
the size and extent

Lingual Thyroid-Treatment

Asymptomatic patients:
No treatment, Periodic follow up
Symptomatic patients:
Suppressive therapy with thyroid supplements
In case of airway obstruction,surgery with auto
transplantation to another body site.
In males over 30 years ,prophylactic surgical
excision as there is a risk of malignancy.

Median Rhomboid glossitis

Benign Migratory glossitis

Hairy Tongue

Accumulation of keratin on the filiform papillae


may be due to increased production of keratin or
decrease in the normal keratin desquamation

Etiology
Antibiotic therapy
Poor oral hygiene
General debilitation
Radiation therapy
Use of oxidizing mouth wash or antacid
Overgrowth of fungus or bacterial organism
Histopathology- it is characterized by
marked elongation and hyper keratosis of
filiform papillae

Fissured Tongue

Multiple grooves and furrows on the surface of the tongue


Strong association noted between geographic tongue
Seen some time in Melkersson Rosenthal syndrome

Lingual Varices
Abnormally dilated
and tortuous veins
Seen in 2/3rds of
people older than 60
years of age(indicating
age related
degeneration )
Asymptomatic

Developmental disorders of the jaws

Exostoses and Tori


Hemifacial atrophy
Hemifacial hypertrophy
Condylar hypertrophy
Coronoid hypertrophy
Mandibular aplasia

Mandibular Torus

Palatine Torus

Hemifacial Atrophy

Hemifacial hypertrophy

Condylar hypertrophy

Coronoid hypertrophy

Mandibular aplasia

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