Developmental Flashcards
When does development of the face begin?
End of 4 weeks
What are the five prominences that forms the face?
1 central frontonasal promience
2 paired maxillary prominences
2 paired mandibular prominences
What are the two subdivisions of the central frontonasal prominence?
2 medial nasal processes
2 lateral nasal processes
What causes cleft lip?
Defective fusion of median nasal processes with maxillary processes
What causes cleft palate?
Defective fusion of the palatal shelves
What are thought to be etiologically related conditions? What is a separate entity?
CL and CL+CP; CP
What is the most common major congenital defect in humans?
Orofacial clefts
What puts a patient at increased risk for orofacial clefts?
Maternal alcohol use, cigarette smoking, and anticonvulsant therapy (particularly phenytoin)
What are possible prevention techniques to prevent orofacial clefts?
Folic acid supplementation
Cleft Lip +/- Cleft Palate: Frequency in Population
Native American Population: 3.6 in 1000 births
Asian Population: 1.5x higher than white population
Black Population: 0.4 in 1000 births
Cleft Lip and CL+CP are more common in what sex?
Males
Where do 70% of unilateral CL occur?
Left side
Cleft Palate Only: Range in severity
May involve hard and soft palate or soft palate only
Cleft Palate Only: What is a minimal manifestation?
Cleft/bifid uvula
Cleft Palate Only: Frequency in Populations
1:80 white individuals
Up to 1:10 asian and native american individuals
Cleft uvula only in 1:250 Black Individuals
Cleft Palate Only: More common in what sex?
Females
What are four rare cleft patterns?
Lateral/Transverse Facial Cleft, Oblique facial cleft, median cleft of the upper lip, and submucous palatal cleft
Describe why a lateral/tranverse facial cleft occurs
Defect in fusion of maxillary and mandibular processes
What specific syndrome do lateral/transverse facial clefts occur with?
Mandibulofacial dysostosis (Treacher Collins Syndrome)
Oblique Facial Cleft: Describe
Cleft extends from upper lip to the eye
Oblique Facial Cleft is always associated with cleft ____
Cleft palate
What happens if an oblique facial cleft is severe?
Incompatible with life
Median Cleft of the Upper Lip: Describe what occurs
Defect in fusion of the medial nasal processes
Submucous Palatal Cleft: Describe
Cleft of the underlying musculature of the soft palate and often a midline palatal bone notch along posterior hard palate.
With a submucous palatal cleft, the overlying mucosa is _____
Intact
Submucous Palatal Cleft: Presentation
Bluish midline discoloration
How is the submucous palatal cleft identified
By palpation
What does the submucous palatal cleft often present with?
Cleft uvula
Define Association
A group of malformations that occur together more than would be expected by chance alone
Define syndrome
A recognizable pattern of signs or symptoms that run together
How does syndrome differ from association
Typically differs from association in that a molecular cause has been discovered
Define Sequence
A pattern of deformations and malformations which is a consequence of a single malformation.
Pierre Robin Sequence: Describe this sequence’s presentation with its three characteristics
- Cleft Palate
- Mandibular micrognathia
- Glossoptosis
How can Pierre Robin Sequence occur?
May occur as an associate finding or as part of a syndrome (DiGeorge Syndrome)
Pierre Robin Syndrome: Describe known sequence of events
Underdevelopment of the jaw -> Tongue displacement/failure to descend -> prevention of fusion of the palatal shelves with resultant cleft palate (or high-vaulted, U-shaped palate in mild cases)
Pierre Robin Sequence: Clinical Outcomes
-Respiratory, feeding and speech difficulty
-Malocclusion
-Possible missing teeth, supernumerary teeth
Other names for Deletion 22q11.2 syndrome
DiGeorge syndrome and velocardial facial syndrome
Deletion 22q11.2 Syndrome: Cause
Syndrome caused by deletion of a small portion of chromosome 22
Deletion 22q11.2 Syndrome: Clinical features
Heart defects
Poor immune system function
Characteristic facial features
Cleft palate
Delayed development with behavioral and emotional problems
Low calcium levels
Deletion 22q11.2 syndrome: Characteristic facial features
Underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip
Acronym for Deletion 22q11.2 syndrome:
CATCH 22:
Cardiac Defect
Abnormal facies
T-Cell deficit
Cleft Palate
Hypocalcemia
Mandibulofacial Dysostosis (Treacher Collins Syndrome): Etiology
Defects of structures derived from 1st and 2nd branchial arches
Mandibulofacial Dysostosis: Inheritance pattern
Autosomal dominant inheritance
Mandibulofacial Dysostosis: Clinical features tend to _____ with subsequent generations in the same family
Worsen
Mandibulofacial Dysostosis: Associated with ______ paternal age
Increased
Mandibulofacial Dysostosis: Clinical features (Characteristic facies)
Hypoplastic zygomas
Narrow face
Depressed cheeks
Downward slanting of palperbral fissures
Mandibulofacial Dysostosis: Effect on ears
Ear deformities and conductive hearing loss
Mandibulofacial Dysostosis: Effect on mandible
Underdeveloped causing retruded chin
Mandibulofacial Cleft: 15% have lateral facial clefting resulting in ___
Macrostomia
Cleft palate appears in how many mandibulofacial dysostosis patients?
15%
How are parotid glands affected in mandibulofacial dysostosis?
Hypoplastic or even absent parotid glands
Mandibulofacial Dysostosis: Radiology
Hypoplasia condyle and coronoid processes
Prominent antegonial notching
Mandibulofacial Dysostosis: Treatment
Depending on severity:
-If breathing is compromised patient may need trachetomy
-Orthognathic surgery
-Orthodontic treatment
Two types of lip pits
Commissural Lip Pits & Paramedian Lip Pits
Commissural Lip Pits: Describe
Small mucosal invaginations at the corners of the mouth on the vermilion border
Commissural Lip Pits: Population affected
M>F
Commissural Lip Pits: How far can these blind fistulas extend to?
Depth of 1 to 4 mm
What type of pits are more prevalent with commissural lip pits?
Preauricular pits
Commissural lip pits are not associated with what two conditions?
Facial or palatal clefts
Commissural Lip Pits: Tx if they get infected
Excision
Commissural Lip Pits are _____ associated with syndromes
NOT
Paramedian Lip Pits: Describe location
Typically bilateral and symmetrical fistulas of the lower lips
Paramedian Lip Pits range from
Subtle depressions to prominent humps
Paramedian Lip Pits can extend down to ____ cm
1.5 cm
What are paramedian lip pits associated with?
Clefting Syndromes such as Van Der Woude Syndrome, Popliteal Pterygium Syndrome and Kabuki Syndrome
What is the most common syndromic form of clefting?
Van Der Woude Syndrome
Double Lip Etiology
May be congenital or acquired