Transcript Clef Lip and Palate

Developmental Defects
Dr. A. Dovigi
Orofacial Clefts
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Development of the central face begins
around the fourth week of human
development.
During the sixth and seventh week the
medial nasal processes merge with each
other and the maxillary processes of the
first branchial arch
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The primary palate is also formed by the
merging of the medial nasal processes to
form the intermaxiallary segment. This
gives rise to the premaxilla which houses
the four anterior incisors.
The secondary palate is formed by the
maxillary processes of the first branchial
arch.
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During the sixth week
bilateral projection
emerge to form the
palatal shelves which are
initially oriented in a
vertical position.
As the mandible grows
the tongue drops down
and the shelves rotate to
a horizontal position.
By the eight week the
shelves proliferate and
fuse in the midline with
the anterior portion
fusing first then
progressing to the
posterior.
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Defective fusion of the medial nasal
processes with the maxillary process leads
to cleft lip (CL).
Defective fusion of the palatal shelves
leads to cleft palate (CP).
CL & CP frequently occur together.
1 in 700 live births has CL CP
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45% of cases are CL + CP
30% are isolated CP
25% are isolated CL
More than 250 developmental syndromes
have been identified that are associated
with clefts.
Most facial clefts are isolated anomalies.
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Recently researchers
have identified a
genetic mutation in
the fibroblast growth
factor signaling
pathway that is the
likely cause of the
most common forms
of CL & CP. (Riley et. al. U of Iowa)
University of Iowa researchers have discovered that mutations in FGF
signaling pathway genes contribute to cleft lip and palate. The top figure
shows the normal sequence for a region of the FGFR1 gene; the bottom figure
shows a mutation in the same region for a person with cleft lip and palate.
(Credit: University of Iowa, Jeff Murray Lab/Bridget Riley)
Other rare clefts can occur.
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Lateral facial cleft: lack of
fusion of the maxillary and
mandibular processes. Extends
from the commisure to the ear
resulting in macrostomia. 0.3%
of all facial defects.
Oblique facial cleft: extends
from the upper lip to the eye.
Nearly always associated with
CP. Severe forms can be
incompatible with life. Very
rare.
Median cleft of the upperlip:
failure of fusion of the medial
nasal processes. Very rare,
associated with a number of
syndromes including oralfacial-digital syndrome.
Incidence
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1in 700 live births in whites.
1.5 times higher frequency in Asians.
0.4 per 1000 live births in blacks.
Native Americans have the highest incidence: 3.6 per
1000 live births.
Isolated CP is less common than CL CP 0.4 per 1000 live
births.
CL CP is more common in males than females with a
ratio of 1.5:1
Isolated CP is more common in females.
80% of CL is unilateral 20% is bilateral.
70% of unilateral CL is on the left side.
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Complete or incomplete clefting can occur and
there is a range with the most mild form
exhibited as a bifid uvula to complete boney
clefting with missing teeth (usually lateral
incisors).
Submucous palatal cleft can develop; there is
intact mucosa but the underlying musculature of
the soft palate is defective. There is frequently a
notch in the bone along the posterior margin of
the hard palate.
Treatment
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Treatment is challenging with a multidisciplinary
approach which includes: general dentist, oral
and maxillofacial surgeon, orthodontist,
prosthodontist, pediatric dentist, plastic surgeon,
speech pathologist, geneticist.
It requires multiple surgeries throughout
childhood during growth and development.
Commissural Lip Pits
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Mucosal invaginations at the cornor of the mouth on the
vermilion.
Common 10-20% of the adult population.
Blind fistulas 1-4mm deep which may express fluid from
minor salivary glands.
Not associated with facial or palatal clefts but these
patients have a higher prevalence of preauricular pits.
No treatment necessary unless infected (surgical
excision)
Paramedian Lip Pits
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Rare congenital invaginations of the median
lower lip.
Usually bilateral symmetric fistulas.
Can extend to a depth of 1.5cm.
Usually inherited as an AD trait associated with
cleft lip and/or cleft palate
van der Woude syndrome or popliteal pterygium
syndrome.
May be excised for cosmetic reasons.
Double Lip
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A redundant fold of tissue on the mucosa
side of the lip.
Usually congenital but can be acquired.
Acquired may be associated with Ascher
Syndrome (double lip, blepharochalasis,
non toxic thyroid enlargement)
Ascher Syndrome
Double Lip
Blepharochalasis
Thyroid Enlargement
Fordyce Granules
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Ectopic Sebaceous glands on the oral
mucosa.
Can be found on the genital mucosa as
well.
Found in 80% of the population therefore
should be considered a normal anatomic
variation.
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Present as multiple yellow or white
papules usually on the buccal mucosa or
lateral portion of the vermilion of the
upper lip.
More commonly seen in adults.
Histologically they are normal sebaceous
glands.
Leukoedema
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Common oral condition 70-80% of adult
blacks and 50% of black children (10% in
whites).
Characterized by a milky white diffuse
mucosa with a folded or wrinkled surface.
The white appearance diminishes or
disappears when the cheek is stretched.
Microglossia
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May be mild and difficult to detect to aglossia
(very rare).
Most cases reported are associzated with
oromandibular-limb hypogenesis syndromes.
Associated limb anaomolies such as hypodactylia
(absence of digits) or hypomelia (hypoplasia of
part or all of a limb). Can also be associated
with situs inversus (mirror positioning of internal
organs).
Macroglossia
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Caused by a wide variety of conditions.
Congenital and hereditary: vascular
malformations (lymphangioma and
hemangioma), hemihyperplasia, cretinism,
Beckwith-Wiedemann syndrome, down
syndrome,
Acquired; amyloidosis, myxedema, acromegaly,
angioedema, tumors.
Lingual Thyroid
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Ectopic thyroid gland located at the junction of the
anterior 2/3 and posterior 1/3 of the tongue, the site of
the developing foramen cecum in the midline.
Based on autopsy studies 10% of men and women have
some ectopic thyroid tissue in the posterior 1/3 of the
tongue however it is not clinically evident. In 70% of
cases this is the patient’s only thyroid tissue. 4-7 times
more frequent in females.
Symptoms usually develop during puberty, pregnancy or
menopause.
Surgical removal or repositioning may be required.
Fissured Tongue
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Relatively common, cause unknown , may be
hereditary factors, 2-5% of the population.
Strongly associated with geographic tongue
many patients have both conditions.
May be a component of Melkersson-Rosenthal
Syndrome (fissured tongue, orofacial
granulomatosis and facial nerve paralysis).
No treatment is necessary, the patient should be
instructed to brush the surface to clear food and
debris which may cause irritation.
Hairy Tongue
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Accumulation of keratin on the
filiform papilla on the dorsum of
the tongue.
Can be brown or black as a result
of growth of pigment producing
bacteria.
Most people affected are heavy
smokers, other causes are;
antibiotic therapy, poor oral
hygeine, radation therapy,
oxidizing mouth rinses and
antacids, overgrowth of fungal or
bacterial oragnisms.
Commonly affects the midline
anterior to the circumvallate
papillae. Should not be confused
with hairy leukoplakia which
occurs along the laterla border of
the tongue in HIV patients.
Varicosities (Varices)
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Abnormally dilated and tortuous veins commonly in older
people.
Most common type is the sublingual varix in 2/3 of
people older than 60yrs.
Solitary varices may occur in other areas of the mouth
(lips and buccal mucosa). They usually become noticed
after they become thrombosed, then they present as a
bluish purple nodule in the mucosa.
Sublingual varices are usually asymptomatic and require
no treatment. Solitary varices may need to be biopsied
to confirm the diagnosis or for esthetic reasons.
Caliber-Persistent Artery
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A common vascular anomaly in which a large caliber
artery extends up into the underlying submucosa without
a reduction in diameter. More common in older adults.
Occurs almost exclusively on the lip as a linear elevation
from pale normal color to bluish. The artery can be seen
by stretching the lip to reveal a pulsing vessel.
Usually asymptomatic and no treatment is necessary. It
is often biopsied when the lesion is mistaken for a
mucocele or other vascular lesion (varix). Birsk bleeding
is encountered during biopsy.
Exostoses
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Localized boney protuberances that arise from the cortical plate.
The best known are the torus palatinus and the torus mandibularis.
Most often discovered in adults:
Buccal exostoses: a bilateral row of boney hard nodules along the
facial aspect of the max and mand alveolar ridge.
Palatal exostoses (palatal tubercles) occur along the lingual aspect
of max tuberosities.
Solitary exostoses; may occur in response to local irritation. May
develop beneath free gingival or skin grafts. May see Reactive
Subpontine exostosis which may develop from alveolar crest bone
Torus Palatinus
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A common exostosis that occurs in the palatal vault in the midline.
Sometimes classified according to their morphology: Flat torus has a
broad base and a smooth surface; Spindle torus has a midline ridge
along the palatal raphe; Nodular torus has multiple protuberances
that may coalesce forming grooves; Lobular torus has a lobular
mass that may arise from a singular base.
Most are small (less than 2 cm) but they can increase in size
throughout life.
They are usually asymptomatic however the overlying mucosa can
become irritated secondary to trauma.
Most studies show a prevalence of 20-35% with a female:male ratio
of 2:1. the prevalence peaks during early adult life tapering off in
later years showing these are dynamic lesions.
Surgical removal is indicated if they become irritated and tramatized
or for fabrication of a denture base.
Torus Mandibularis
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A common exostosis that develops along the lingual
portion of the mandible. Above the mylohyoid in the
premolar region, bilateral in 90% of cases.
Can appear on periapical radiographs superimposed over
the roots of the teeth.
Prevalence 5-40% depending on the study, more
common in Asians and Inuit.
Prevalence peaks in early adult life and tapers in later
years. It also correlates with bruxism and remaining
teeth which supports it’s response to functional stress.
Surgery may be needed to accommodate a lower
denture.
Stafne Defect
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Asymptomatic radiolucent lesionlocated
near the angle of the mandible that
represents a concavity of the cortical bone
caused by the submandibular gland.
It is below the IDN between the molar
teeth and the angle of the mandible
Board Questions
Speech problems associated with cleft lip and
palate are usually the result of:
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A. Poor tongue control that produces lisping.
B. the inability of a soft palate to close air flow
into the nasal cavity.
C. the inability of the tongue to close air flow
from the epiglottis.
D. missing teeth that make formation of
articulation sounds by the tongue difficult.
E. poor lip musculature or heavy scars in the lips
that limit vowel sound production.
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B. the inability of a soft palate to close air
flow into the nasal cavity.
A cleft lip occurs following the failure of permanent
union between which of the following?
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A. The palatine processes.
B. The maxillary processes.
C. The palatine processes with the
frontonasal processes.
D. The maxillary processes with the
palatine processes.
E. The maxillary processes with the
frontonasal processes.
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E. The maxillary processes with the
frontonasal processes.
Most clefts are isolated anomalies that occur in:
A. Blacks on the left side.
B. Asians on the right side.
C. Whites on the left side.
D. Native Americans on the left side.
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D. Native Americans on the left side.
Paramedian Lip Pits are associated
with:
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Ascher Syndrome
Beckwith-Weidemann Syndrome
Van der Woude syndrome
Down syndrome
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Van der Woude syndrome
Blepharochalasis, double Lip and
non-toxic thryoid enlargement are
associatyed with which syndrome/
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Beckwith-Weidemann syndrome
Down syndrome
Ascher syndrome
Popliteal Pterygium syndrome.
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Ascher syndrome
A lingual thyroid can be safely
surgically removed in all cases.
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True
False
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False
This may be the only functioning thyroid
tissue the patient has.
Fordyce Granules are;
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Ectopic salivary galnds
Ectopic sebaceous glands
Inflammatory in origin
Epithelial thickening
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Ectopic sebaceous glands