Test Two Flashcards

1
Q

What gene is associated with Turner Syndrome?

A

SHOX gene

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2
Q

What genetic change causes DiGeorge Syndrome?

A

Deletion in the q arm of chromosome 22

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3
Q

Mutations in which three genes can lead to Amelogenesis Imperfecta?

A
  1. AMELX, 2. ENAM and 3. MMP20
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4
Q

What two genes are associated with Osteogenesis Imperfecta?

A
  1. COL1A1 and 2. COL1A2
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5
Q

What gene is disrupted in Holoprosencephaly?

A

Sonic Hedgehog

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6
Q

What gene is disrupted in Apert’s syndrome?

A

FGFR2

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7
Q

What gene is disrupted in Carpenter’s Syndrome?

A

RAB23

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8
Q

What gene is disrupted in Crouzon’s Syndrome?

A

FGFR2

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9
Q

What gene is disrupted in Pierre Robin Sequence?

A

SOX9

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10
Q

What are the four areas of study in the craniofacial complex?

A
  1. Cranial vault, 2. Cranial base, 3. Nasomaxillary and 4. Mandible
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11
Q

What is the most complex structure in the human skeleton?

A

Cranial Base

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12
Q

What is the first region of the skull to reach adult size?

A

Cranial Base

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13
Q

What are the three synchondroses of the cranial base called?

A
  1. Spheno-occipital, 2. Inter-sphenoid and 3. Spheno-ethmoid
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14
Q

When do the inter-sphenoid and sphenoid-ethmoid stop growing?

A

Around 7 years old

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15
Q

What cartilage is associated with the growth of the maxilla?

A

The cartilage of the nasal capsule

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16
Q

Where is the center of ossification for the maxilla?

A

Between the anterosuperior alveolar nerve and the inferior orbital nerve

17
Q

What two forces displace the maxilla downwards and forwards?

A
  1. Push from behind from cranial base growth and 2. Growth of sutures
18
Q

During which week of development do the upper and lower joint cavities of the mandible form?

19
Q

What muscle displaces the mandible after it has been fractured?

A

Lateral Pterygoid muscle

20
Q

What are two examples of growth sites?

A
  1. Sutures and 2. Condyles
21
Q

What is an example of a growth center?

A

Synchondroses

22
Q

What is primary cartilage?

A

Cartilage that is stimulated by systemic growth stimuli and is present in growth centers

23
Q

What is Secondary Cartilage?

A

Cartilage that must be acted on by local growth factors and is present in growth sites

24
Q

What theory of growth holds that mechanical strains cause the collagen crystals in bone to morph and modifies their signals to osteoclasts/osteoblasts?

A

Bioelectric Signals Theory

25
What is Wolff's law?
That bones will adapt to the loads they are placed under
26
What is the Mechanostat?
A theory that bone and muscle quantities correlate and that working out builds bones
27
What is the Functional Matrix Theory?
That neither bone nor cartilage dictates the growth of the facial bones, but the soft tissue does.
28
So what primarily affects mandibular growth?
Soft tissue changes