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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
How to prevent blindness in Crouzons?
LeFort I
26
Name the mutations of Pfeiffer syndrome
FGFR-1 or FGFR2 | Located on chromosomes 8 & 10 respectively
27
Pfeiffer syndrome shows what unique feature
chiari malformation - cerebellar tonsil (cerebellum gets pushed through foramen magnum)
28
Which syndrome with craniosynostosis is associated with a "central sleep apnea"
Pfeiffer syndrome
29
Name the mutation of Saethre-Chotzen
TWIST gene, located on Chromosome 7
30
How is the mutation in Saethre-Chotzen inherited
Autosomal dominant
31
Describe Scaphocephaly
A specific variety of a long narrow head that resembles an inverted boat
32
What suture is involved in Scaphocephaly
Premature fusion of the sagittal suture.
33
Hhow is Cleidocranial Dysplasia inherited?
Autosomal Dominant
34
Main features of Cleidocranial Dysplasia
- 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
Describe the genetics of Down's syndrome
Chromosome abnormality, usually due to an extra copy of the 21st chromosome
36
Dental findings of Down's Syndrome
- Delayed eruption - Congenitally missing teeth (primary and permanent) - posterior crossbites common
37
Ehlers Danlos is defined as the most common inherited disorder of what?
Connective tissue characterized by Hyperelasticity of the skin and Hypermobility of the joints
38
Marfan Syndrome is inherited how?
Autosomal dominant
39
What gene is associated with Marfan Syndrome
FBNI
40
What is the most significant of the defects in Marfan Syndrome
Cardiovascular abnormalities
41
How is Gardners Syndrome inherited?
Autosomal dominant
42
Describe Gardners Syndrome
Characterized by multiple growths (polyps) in the colon Supernumerary teeth Bony tumors of the skull (osteomas/odontomas)
43
Define Hemifacial microsomia
Asymmetric cranioacial anomaly involving skeletal, neuromuscular and soft tissue components of the 1st and 2nd branchial arches
44
In Hemifacial microsomia, the chin points to what side?
Points toward the affected side.
45
Describe the condyle in Hemifacial microsomia
It may vary from a thin and flat ramus with condyle to complete agenesis of these structures
46
Describe maxillary growth in hemifacial microsomia
Abnormal maxillary growth causing an occlusal cant upward toward affected side
47
What genes are associated with hemifacial microsomia and tooth agenesis
MSX1 and PAX9
48
What is Goldenhar syndrome
Severe hemifacial microsomia with orbital involvement.
49
Ectodermal dysplasia affects only men, women, or both equally?
Usually affects men and is linked to X chromosome
50
What is Osteogenesis Imperfecta
Type I inherited collagen disorder characterized by abnormal bone fragility and osteopenia
51
What is the most common known clinical sign of Osteogenesis Imperfecta
Blue or Grey schlera
52
Which syndromes have the presence of Wormian bones?
Cleidocranial Paget's Osteogenesis Imperfecta (Mnemonic - CaPOW)
53
What is Dentinogenesis Imperfecta
Type I inherited collagen disorder
54
Does dentinogenesis imperfecta affect primary dentition, permanent dentition ,or both
Affects primary dentition more
55
Clinical appearance of teeth with dentinogenesis imperfecta
- Normal enamel but with blue-brown discoloration of teeth - bulbous crowns - cervical constriction - obliterated pulp chambers
56
How is Amelogenesis imperfecta inherited?
Autosomal dominant
57
What is the radiographic appearance of amelogenesis impferfecta
Similar radiographic density of enamel and dentin | - intrapulpal calcifications
58
Do teeth in amelogenesis imperfecta have a lower or higher rate of caries?
Higher rate
59
Describe the clinical presentation of Pierre Robin Sequence patients
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
What is the cause of Pierre Robin Sequence
intra-uterine mandibular constriction
61
Name the neonatal triad of signs in Pierre Robin Sequence
Micrognathia Glossoptosis Cleft Palate
62
About 1/3 of Pierre-Robin patients have a defect in what?
Cartilage formation and are said to have Stickler's Syndrome
63
Treacher Collins (Mandibulofacial Dysostosis) etiology
Disturbance in the 7th week (diminished neural crest migration) - Defects of the 1st and 2nd branchial arch
64
How is Treacher Collins inherited?
Autosomal dominant
65
From a lateral ceph, what would the findings be in a patient with Treacher Collins syndrome
Extremely steep mandibular plane Antegonial notching mandibular deficiency
66
Turner Syndrome affects what gender?
Females
67
What is Turner Syndrome
Chromosomal disorder characterized by short stature and organ malformations - Broad webbed neck - Loss of ovarian function
68
Patients with Turner Syndrome are at higher risk for what dental problem?
Idiopathic root resorption
69
Common findings in Van Der Woude Syndrome
Paramedian Lip pits and Cleft Palate
70
What is Peutz-Jeghers Syndrome
Characterized by intestinal polyps | - pigmented spots around the lips, gums, mucous membranes and skin from infancy through childhood
71
Describe clinical findings of Fetal Alcohol Syndrome (FAS)
Deficiencies of midline tissues (maxilla and midface) | - Intellectual disability occurs during day 17 of development
72
Stevens-Johnson syndrome is a severe form of what?
Erythema Multiforme | - Blistering/ulcerative lesions
73
Which disorder has these three major features 1. Neurofibromas 2. Cafe au lait pigmentations 3. Pigmented nodules of the iris (Lisch nodules)
Neurofibromatosis (Von Recklinghausen)
74
Which syndromes feature delayed eruption of teeth?
1. Down's (Greatest) 2. Cretism/myxedema 3. Aperts 4. Cleidocranial Dysplasia 5. Gardners
75
Which syndromes features impacted/supernumerary teeth
1. Gardners 2. Cleidocranial Dysplasia 3. Peutz-Jeghers
76
Which syndromes are considered causes of craniosynostosis
1. Apert Syndrome 2. Crouzon Syndrome 3. Pfeiffer Syndrome 4. Saethre-Chotzen Syndrome
77
Most cases of syndromic craniosynostosis are cased by what four genetic mutations
1. FGFR1 2. FGFR2 3. FGFR3 4. TWIST gene
78
Byzantine palate is seen in what syndromes
Crouzons | Aperts
79
Which syndrome shows Cyanosis at birth
Pierre Robin
80
Which syndrome is associated with Bushfield Spots
Down's
81
Which syndrome is associated with Choanal atresia
Treacher Collins

ABO Written Exam (24 decks)

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