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ABO Written Exam > UCSF - Craniofacial/Developmental syndromes > Flashcards

UCSF - Craniofacial/Developmental syndromes Flashcards

1
Q

What is the most common type of short limbed dwarfism?

A

Achondroplasia

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2
Q

Describe what happens in Acondroplasia?

A

Disturbance of endochondral bone formation

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3
Q

Achondroplasia is due to a defect in what particular cellular mechanism?

A

Due to defect of the FGFR3 growth receptor

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4
Q

Describe the clinical signs of Achondroplasia

A
  • Brachycephalic
  • Retruded maxilla due to decreased cranial base growth (Cl III)
  • Shortened long bones
  • Normal intelligence
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5
Q

In Achondroplasia, which jaw (maxilla or mandible) growth is abnormal?

A

Maxillary growth - the length is shorter

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6
Q

Describe the reason for maxillary deficiency in Achondroplasia.

A

Length is shorter due to deficient nasal capsule growth, the palatal plane tipped inferiorly in posterior and deficient infraorbital rims.

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7
Q

What is Acromegaly?

A

A chronic disease of adults caused by an anterior pituitary tumor which secretes excess growth hormone causing excessive growth of the mandible and a skeletal class III malocclusion.

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8
Q

> 95% of acromegaly cases result from what? And does it occur more in women or men?

A

Results from a pituitary adenoma and occurs more in men

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9
Q

Describe the facial changes in patients with Acromegaly

A
  • Prominent Supraorbital Ridges
  • “Hanging” Columella from septal cartilage overgrowth
  • Prognathic Mandible
  • Soft Tissue Swelling
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10
Q

Describe radiographic changes in patients with Acromegaly

A
  • Increased thickness of calvarium
  • Frontal sinus enlargement
  • Sella Tursica enlargement (93%)
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11
Q

What is the difference between Acromegaly and Gigantism?

A

It is differentiated by the fusion of the epiphyseal growth plates.
Before closure = gigantism
After closure = acromegaly

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12
Q

How is Aperts Syndrom inherited?

A

Autosomal Dominant trait caused by mutation in FGFR2

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13
Q

Name the gene that is mutated in Aperts Syndrome

A

FGFR2

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14
Q

A mutation in Aperts Syndrome causes what clinical feature?

A

Craniosynostosis

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15
Q

Which suture is most commonly fused prematurely in Aperts Syndrome

A

Coronal Suture

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16
Q

T/F Patients with Apert’s syndrome show signs of intellectual disability

A

True.

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17
Q

Clinical Signs of Apert’s syndrome

A
  • Midfacial malformations & retrusion
  • Cleft of soft palate
  • Stapes fixation
  • Small beaklike nose
  • Exopthalmos
  • Hypertelorism & Strabismus
  • Syndactyl
  • Intellectual Disability
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18
Q

How is Carpenter syndrome inherited?

A

Autosomal recessive - mutation that is passed

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19
Q

What is the mutation in Carpenter syndrome

A

RAB23 gene, located on chromosome 6

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20
Q

Clinical signs of Carpenter syndrome

A
  • Midface retrusion
  • High arched palate
  • Low-set and small ears
  • Extra digits
  • Webbing of fingers
  • shorter digits
  • Heart defects
  • Microgenitalism
  • Lip pits
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21
Q

How is Crouzons syndrome inherited?

A

Autosomal dominant - mutation

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22
Q

What gene is the mutation found on in Crouzons?

A

FGFR2/3

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23
Q

What is the most common form of craniosynostosis?

A

Crouzons

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24
Q

Clinical signs of Crouzons?

A
  • Underdeveloped midface, receded cheekbones or exophthalmos
  • supernumerary teeth and delayed eruption of teeth
  • Cleft palate may be associated
  • Normal mental capacity
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25
Q

How to prevent blindness in Crouzons?

A

LeFort I

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26
Q

Name the mutations of Pfeiffer syndrome

A

FGFR-1 or FGFR2

Located on chromosomes 8 & 10 respectively

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27
Q

Pfeiffer syndrome shows what unique feature

A

chiari malformation - cerebellar tonsil (cerebellum gets pushed through foramen magnum)

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28
Q

Which syndrome with craniosynostosis is associated with a “central sleep apnea”

A

Pfeiffer syndrome

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29
Q

Name the mutation of Saethre-Chotzen

A

TWIST gene, located on Chromosome 7

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30
Q

How is the mutation in Saethre-Chotzen inherited

A

Autosomal dominant

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31
Q

Describe Scaphocephaly

A

A specific variety of a long narrow head that resembles an inverted boat

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32
Q

What suture is involved in Scaphocephaly

A

Premature fusion of the sagittal suture.

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33
Q

Hhow is Cleidocranial Dysplasia inherited?

A

Autosomal Dominant

34
Q

Main features of Cleidocranial Dysplasia

A
  • Absent or incompletely formed collar bones
  • Numerous unerupted supernumerary teeth
  • High palate with cleft common
  • Delayed eruption of permanent teeth
  • Wormian bones - only affects intramembranous bones
35
Q

Describe the genetics of Down’s syndrome

A

Chromosome abnormality, usually due to an extra copy of the 21st chromosome

36
Q

Dental findings of Down’s Syndrome

A
  • Delayed eruption
  • Congenitally missing teeth (primary and permanent)
  • posterior crossbites common
37
Q

Ehlers Danlos is defined as the most common inherited disorder of what?

A

Connective tissue characterized by Hyperelasticity of the skin and Hypermobility of the joints

38
Q

Marfan Syndrome is inherited how?

A

Autosomal dominant

39
Q

What gene is associated with Marfan Syndrome

40
Q

What is the most significant of the defects in Marfan Syndrome

A

Cardiovascular abnormalities

41
Q

How is Gardners Syndrome inherited?

A

Autosomal dominant

42
Q

Describe Gardners Syndrome

A

Characterized by multiple growths (polyps) in the colon
Supernumerary teeth
Bony tumors of the skull (osteomas/odontomas)

43
Q

Define Hemifacial microsomia

A

Asymmetric cranioacial anomaly involving skeletal, neuromuscular and soft tissue components of the 1st and 2nd branchial arches

44
Q

In Hemifacial microsomia, the chin points to what side?

A

Points toward the affected side.

45
Q

Describe the condyle in Hemifacial microsomia

A

It may vary from a thin and flat ramus with condyle to complete agenesis of these structures

46
Q

Describe maxillary growth in hemifacial microsomia

A

Abnormal maxillary growth causing an occlusal cant upward toward affected side

47
Q

What genes are associated with hemifacial microsomia and tooth agenesis

A

MSX1 and PAX9

48
Q

What is Goldenhar syndrome

A

Severe hemifacial microsomia with orbital involvement.

49
Q

Ectodermal dysplasia affects only men, women, or both equally?

A

Usually affects men and is linked to X chromosome

50
Q

What is Osteogenesis Imperfecta

A

Type I inherited collagen disorder characterized by abnormal bone fragility and osteopenia

51
Q

What is the most common known clinical sign of Osteogenesis Imperfecta

A

Blue or Grey schlera

52
Q

Which syndromes have the presence of Wormian bones?

A

Cleidocranial
Paget’s
Osteogenesis Imperfecta
(Mnemonic - CaPOW)

53
Q

What is Dentinogenesis Imperfecta

A

Type I inherited collagen disorder

54
Q

Does dentinogenesis imperfecta affect primary dentition, permanent dentition ,or both

A

Affects primary dentition more

55
Q

Clinical appearance of teeth with dentinogenesis imperfecta

A
  • Normal enamel but with blue-brown discoloration of teeth
  • bulbous crowns
  • cervical constriction
  • obliterated pulp chambers
56
Q

How is Amelogenesis imperfecta inherited?

A

Autosomal dominant

57
Q

What is the radiographic appearance of amelogenesis impferfecta

A

Similar radiographic density of enamel and dentin

- intrapulpal calcifications

58
Q

Do teeth in amelogenesis imperfecta have a lower or higher rate of caries?

A

Higher rate

59
Q

Describe the clinical presentation of Pierre Robin Sequence patients

A

Cmall, pushed back lower jaw, large tongue and often a wide U-shaped cleft of both hard and soft palate.
- During development does not come away from baby’s chest

60
Q

What is the cause of Pierre Robin Sequence

A

intra-uterine mandibular constriction

61
Q

Name the neonatal triad of signs in Pierre Robin Sequence

A

Micrognathia
Glossoptosis
Cleft Palate

62
Q

About 1/3 of Pierre-Robin patients have a defect in what?

A

Cartilage formation and are said to have Stickler’s Syndrome

63
Q

Treacher Collins (Mandibulofacial Dysostosis) etiology

A

Disturbance in the 7th week (diminished neural crest migration)
- Defects of the 1st and 2nd branchial arch

64
Q

How is Treacher Collins inherited?

A

Autosomal dominant

65
Q

From a lateral ceph, what would the findings be in a patient with Treacher Collins syndrome

A

Extremely steep mandibular plane
Antegonial notching
mandibular deficiency

66
Q

Turner Syndrome affects what gender?

67
Q

What is Turner Syndrome

A

Chromosomal disorder characterized by short stature and organ malformations

  • Broad webbed neck
  • Loss of ovarian function
68
Q

Patients with Turner Syndrome are at higher risk for what dental problem?

A

Idiopathic root resorption

69
Q

Common findings in Van Der Woude Syndrome

A

Paramedian Lip pits and Cleft Palate

70
Q

What is Peutz-Jeghers Syndrome

A

Characterized by intestinal polyps

- pigmented spots around the lips, gums, mucous membranes and skin from infancy through childhood

71
Q

Describe clinical findings of Fetal Alcohol Syndrome (FAS)

A

Deficiencies of midline tissues (maxilla and midface)

- Intellectual disability occurs during day 17 of development

72
Q

Stevens-Johnson syndrome is a severe form of what?

A

Erythema Multiforme

- Blistering/ulcerative lesions

73
Q

Which disorder has these three major features

  1. Neurofibromas
  2. Cafe au lait pigmentations
  3. Pigmented nodules of the iris (Lisch nodules)
A

Neurofibromatosis (Von Recklinghausen)

74
Q

Which syndromes feature delayed eruption of teeth?

A
  1. Down’s (Greatest)
  2. Cretism/myxedema
  3. Aperts
  4. Cleidocranial Dysplasia
  5. Gardners
75
Q

Which syndromes features impacted/supernumerary teeth

A
  1. Gardners
  2. Cleidocranial Dysplasia
  3. Peutz-Jeghers
76
Q

Which syndromes are considered causes of craniosynostosis

A
  1. Apert Syndrome
  2. Crouzon Syndrome
  3. Pfeiffer Syndrome
  4. Saethre-Chotzen Syndrome
77
Q

Most cases of syndromic craniosynostosis are cased by what four genetic mutations

A
  1. FGFR1
  2. FGFR2
  3. FGFR3
  4. TWIST gene
78
Q

Byzantine palate is seen in what syndromes

A

Crouzons

Aperts

79
Q

Which syndrome shows Cyanosis at birth

A

Pierre Robin

80
Q

Which syndrome is associated with Bushfield Spots

81
Q

Which syndrome is associated with Choanal atresia

A

Treacher Collins

ABO Written Exam (24 decks)

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