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?

A

12

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
Q

What is Wolff’s law?

A

That bones will adapt to the loads they are placed under

26
Q

What is the Mechanostat?

A

A theory that bone and muscle quantities correlate and that working out builds bones

27
Q

What is the Functional Matrix Theory?

A

That neither bone nor cartilage dictates the growth of the facial bones, but the soft tissue does.

28
Q

So what primarily affects mandibular growth?

A

Soft tissue changes