Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Oral Pathology Exam 3 > 2. Syndromes > Flashcards

2. Syndromes Flashcards

1
Q

What is the triad of Pierre Robin Sequence?

A
  1. U-shaped Cleft Palate
    • ​​Classicly it appears as a fissure
  2. Mandibular Retrognathia
    • Underdeveloped and small mandible
    • ​​Class II
  3. ​Glossoptosis
    • ​​Airway obstruction by lower displacement of the tongue
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the treatment for Pierre Robin Sequence? (4)

A
  • CP Repair
  • Prevent Airway Blockage - don’t lay baby flat
  • Pt will outgrow mandibular hypoplasia - jaw catches up
  • Follow for the development of Stickler Syndrome
    • ​Persistent micrognathia and retinal detachment leading to blindness
    • When the jaw doesnt catch up
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What causes Brachycephaly?

A

Head = Wider and Shorter

  • Premature fusion of coronal suture
  • External deformation - prolonged lying on back
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What causes Dolichocephaly (Scaphocephaly)?

A

Longer Head

  • Premature fusion of sagittal suture
  • External deformation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the etiology of Cleidocranial Dysplasia?

A
  • Autosomal Dominant in most cases
  • Defect in the RUNX2 gene involved in osteoblastic differentiation and odontogenesis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the clinical features of the skull in Cleidocranial Dysplasia? (4)

A
  • Brachycephaly
  • Frontal bossing
  • Open fontanels
  • Wormian bones
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the clinical skeletal features in Cleidocranial Dysplasia? (2)

A
  • Clavicles = hypoplastic, malformed or absent
  • Ocular Hypertelorism
    • ​Widely spaced eyes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the clinical oral features of Cleidocranial Dysplasia? (3)

A
  • High, narrow palate with or without clefting
  • Delayed or failed eruption or teeth
  • Supernumerary teeth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the pathogenesis of Crouzon Syndrome?

A

Craniosynostosis

Premature fusion of sutures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the etiology of Crouzon Syndrome?

A
  • Autosomal Dominant
  • Possibly caused by a FGFR2 mutation
    • ​Fibroblast Growth Factor Receptor 2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the clinical features of the skull in Craniofacial Dysostosis? (3)

A
  • Variety of head shape changes, due to craniosynostosis
  • Digital markings, “beaten metal”
    • ​Brain presses on the skull, leaving an impression in the bone
  • Increased intracranial pressure
    • ​The sutures fuse early so the brain has no where to go
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the clinical facial features of Crouzon Syndrome? (3)

A
  • Hypertelorism
  • Strabismus“wandering eye”
  • Ocular Proptosis
    • Due to midface deficiency/maxillary hypoplasia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the oral features of Crouzon Syndrome? (2)

A
  • High arched, narrow palate
  • Class III malocclusion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the treatment for Craniofacial Dysostosis? (3)

A
  • Correct striabismus early (< 3yrs old) or blindness can occur
  • Open sutures to prevent retardation
    • Uncommon to see marked mental deficiency
  • Mid-face advancement
    • To help with Class III malocclusion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What does Treacher-Collins Syndrome mostly effect?

A

Mandible

aka Mandibulofacial Dysostosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the etiology of Treacher-Collins Syndrome?

A
  • Mostly new mutations
  • Autosomal Dominant in 40%

Variable expressivity

17
Q

What are the clinical features of the skull and face in Treacher-Collins Syndrome? (6)

A
  • Bird-like face
    • Facial features are constricted together
  • Hypoplastic Zygoma –> downslanting eyes
  • Colobomas = orbital rim defect, notch in lower outer eyelid
  • Missing eyelashes
  • Ear anomalies - may having hearing deficits
  • No Retardation
18
Q

What are the oral features associated with Treacher-Collins Syndrome? (5)

A
  • Class II malocclusion
  • Macrostomia
  • Coronoid and condylar hypoplasia
  • High arched palate, some have clefting
  • Pharyngeal Hypoplasia
    • Can lead to respiratory difficulties and death
19
Q

Which etiology of Down Syndrome is seen in moms younger than 25 yrs?

A

Translocation (3%)

  • 46 chromosomes
  • The extra one attaches to another one
20
Q

Which etiology of Down Syndrome causes the phenotypic features to not be as dramatic?

A

Mosaicism

  • 2 cell lines = 46 chromosomes + 47 chromosomes
21
Q

What etiologies of Down Syndrome are usually associated with a mother that is older than 35-40 yrs?

A

Typical trisomy 21

Mosaicism

22
Q

What are the general features of Down Syndrome? (7)

A
  • Flat face
  • Eye features:
    • Small palpebral fissures (eyes closed down)
    • Epicanthal folds
    • Up-slanting eyes
  • Mental retardation
  • Simian crease = prominent horizontal line through the middle of the palm
  • Wide space between 1st (big toe) and 2nd toes
  • Friendly disposition
  • Delayed sexual development
23
Q

What medical concerns should we have for pts with Down Syndrome? (3)

A
  • Congenital heart defects later in life
  • Abnormal immune response:
    • ​Lung infection
    • Thyroid autoimmunity
    • Severe generalized periodontal disease
  • Increased risk for Acute Leukemia
24
Q

What are the clinical oral features of Down Syndrome? (4)

A
  • Macroglossia
  • Fissured tongue
  • Tooth malformation
  • Severe generalized periodontal disease
    • Due to their immune deficient state
25
Q

What are the common clinical features of both types of Oral - Facial - Digital Syndrome? (7)

A
  • Multiple frenula
  • Midline cleft of upper lip
    • Normally seen over lateral incisor
  • Clefted and lobulated tongue
  • Missing teeth
  • Brachydactyly - shortened digits
  • Hexadactyly - 6 fingers
  • Polysyndactyly of halluces - 2 big toes and they are fused together
26
Q

What is the etiology of OFD-1?

A

X-linked Dominant

27
Q

What population is affected in OFD-1?

A

Only in females

Lethal in males

28
Q

What are the clinical features exclusive to OFD-1? (4)

A
  • Absent lateral incisors
  • Multiple fibrous oral bands cuasing clefts in alveolus
  • Mild mental retardation
  • Palatal clefting more common!!!
29
Q

What is the etiology of OFD-2?

A

Autosomal Recessive

Seen in males and females

30
Q

What is the unique clinical feature to OFD-2?

A

Bilateral hexadactyly and polysyndactyly of halluces

31
Q

What is the etiology of Marfan Syndrome?

A
  • Autosomal Dominant
  • Mutation in fibrillin 1
    • Important component of elastic fibers
32
Q

What are the skeletal clinical features of Marfan Syndrome? (4)

A
  • Slender, elongated features
  • High arched palate
  • Hyper-extensible joints
  • Deformed chest - caved in or sticking out
33
Q

What ocluar changes occur in Marfan Syndrome? (2)

A
  • Dislocation of lens
  • Retinal detachement
    • Also seen in Stickler Syndrome
34
Q

What are the cardiovascualr implications of Marfan Syndrome? (2)

A
  • Aortic Aneurysm and Dissection
    • ​Most common cause of death
  • Cardiac Valve Regurgitaion
35
Q

What is the treatment for Marfan Syndrome?

A
  • Treat the cardiac conditions (hypertension and valve problems) to prevent Aortic Aneurysms

Oral Pathology Exam 3 (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions