Midterm Flashcards

1
Q

Another name for patterning in early embryonic development.

A

gastrulation

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2
Q

Pierre-Robin, Treacher Collins, and Marfan syndrom can all cause….

A

malocclusion syndromes

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3
Q

Crouson, Apert, Pfeiffer, and many clefting syndromes can all cause…

A

craniofacial malformations

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4
Q

Sclerosteosis, van Buschem’s disease, Osteoporosis-Pseudoglioma Syndrome, and Paget’s disease are all….

A

bone mass diseases

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5
Q

Craniofacial anomalies account for about _____ of all congenital defects.

A

1/3

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6
Q

What are the five signaling pathways used during development?

A
  1. Receptor Tyrosine Kinase
  2. TGF-beta superfamily
  3. Wnt
  4. Hedgehog
  5. Notch
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7
Q

Which one of the these genes does NOT control homeotic selector genes?

  • coordinate genes
  • gap genes
  • Pair-rule genes
  • segment polarity genes
A

-coordinate genes

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8
Q

What do morphogenes do?

A

create a gradient/balance between positive and inhibitory inductive signals

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9
Q

How can symmetrical sister cells be different?

A

inductive signaling causes them to differentiate

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10
Q

Two different inductive signaling mechanisms

A
  • sequential induction

- morphogene gradients

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11
Q

how many distinct craniofacial syndromes?

A

> 700

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12
Q

The notochord, dorsal tube, and ectoderm all interact via inductive signaling with the __________ to form structures.

A

dermamyotome

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13
Q

The dermamyotome gives rise to…

A

-skin and muscles

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14
Q

The sclerotome gives rise to what three things….

A

ribs, vertebrae, and base of skull/some facial muscles

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15
Q

Craniofacial structures are formed by what cells?

A

Neural crest cells

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16
Q

Neural crest cells migrate out of regions called….

A

rhombomeres

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17
Q

Tooth formation is initiated by interactions between what two cell types?

A

Ectoderm and mesenchyme

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18
Q

Ectodermal dysplasias involve what five structures?

A
  • teeth
  • nails
  • skin
  • sweat glands
  • hair
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19
Q

What type of code drives tooth formation?

A

homeobox code

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20
Q

What is more common, cleft lip or cleft palate?

A

Cleft lip (1:1000) (palate 1:2500)

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21
Q

Cleft lip is more common on R or L side?

A

Left side

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22
Q

A submucus cleft palate can cause….

A

bifid uvula

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23
Q

Palate repair needs to be done by how many months? Why?

A

9-12 months

-speech begins to develop at 1 year

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24
Q

What is the purpose of an alveolar bone graft?

A

Provide support for erupting teeth and orthodontic tooth movement.

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25
Q

What is the Robin Sequence?

A

combination of glossoptosis, micrognathia, and respiratory distress

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26
Q

Why lay a baby with Robin Sequence prone?

A

to allow tongue to fall away from airway

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27
Q

What is distraction osteogenesis?

A

surgical technique where new bone formation is induced by gradual separation of bony segments after osteotomy

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28
Q

What is craniosynostosis?

A

one or more of the fibrous sutures in infant skull prematurely fuses by ossifying and changes the growth pattern of the skull

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29
Q

Most and least common craniosynostosis?

A

Most common: sagittal

Least common: lambdoidal

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30
Q

What is typically underdeveloped in syndromic craniosynostosis?

A

the midface

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31
Q

Pts with cleidocranial dysplasia have hypodontia or supernumerary teeth?

A

supernumerary

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32
Q

Gardner Syndrome causes…

A

osteomas all over the jaw (higher risk for colon cancer)

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33
Q

Pts with Treacher Collins syndrome are often missing…

A

their cheekbones

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34
Q

What is hemifacial microsomia?

A

one side of face is underdeveloped

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35
Q

This type of tissue is typically tightly packed and adherent cells and on the external part of the body.

A

Epithelia

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36
Q

These types of cells are loosely connected cells that don’t interact strongly with neighboring cells. Can be very motile and respond to cues quickly.

A

Mesenchymal cells

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37
Q

What is the first axis formed during development? When is it apparent?

A

Dorsal-ventral axis apparent by the blastocyst stage

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38
Q

What week is the A-P axis established in development?

A

3rd week

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39
Q

The start of the primitive streak is the _______ end.

A

posterior

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40
Q

What drives elongation of the embryo?

A

convergence and proliferation of epithelial cells forming the primitive streak

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41
Q

What forms the mesoderm and embryonic endoderm (gut)

A

Epiblast layer that migrates through the primitive streak

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42
Q

What is created by the ectoderm abutting the endoderm at the anterior region of the bilaminar disk?

A

oropharyngeal membrane

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43
Q

What important structure is always located at the anterior end of the primitive streak of vertebrate embryos?

A

The Node

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44
Q

What is the function of The Node for embryonic development?

A

patterning and induction of mesoderm and embryonic endodermal cells. Establishing L-R symmetry

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45
Q

What is the purpose of the prechordal plate?

A

gives signals for induction of head structures

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46
Q

What does the notochord do?

A

provides signals for induction of neural plate

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47
Q

What part of the Node is responsible for creating asymmetry?

A

cilium

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48
Q

Factors of the mesoderm induce thickening of the overlying __________ to form the neural tube.

A

ectoderm

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49
Q

Signals from the notochord produce a _________ in the ectoderm to drive folding.

A

hinge point

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50
Q

What is the reason for a couple different cell populations forming in the head region?

A

inductive signalling

  • notochord + ectoderm
  • prechordal plate + ectoderm
  • anterior visceral endoderm + ectoderm
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51
Q

The Lim1 gene in mice is responsible for….

A

head formation

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52
Q

What is the hinge point during cephalization?

A

the oropharyngeal membrane

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53
Q

What is concomitant with cephalization?

A

Folding of the whole embryo as well as specialization of foregut and hindgut.

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54
Q

During folding of the neural tube, neural crest cells will break away from their epithelial neighbors and become _____________-like.

A

mesenchymal like

55
Q

After breaking off the neural tube, neural crest cells travel where?

A

to the ventral side of the embryo.

56
Q

What cells are major contributors to craniofacial structure and specifically to mineralized tissues of the oral region?

A

Cranial Neural Crest Cells

57
Q

What constitutes the “second wave of development” seen in vertebrates?

A

Neural Crest Cell migration/development

58
Q

What are the 8 specific regions that define NCC populations and their migration?

A

Rhombomeres

59
Q

Do rhombomeres determine NCC differentiation or migration?

A

Migration. Differentiation (structure/function) is predetermined

60
Q

Ameloblasts, fibroblasts (pulp), and odontoblasts are all _________ derivatives, but odontoblasts and fibroblasts are also _____________ derivatives.

A
  • ectodermal

- neural crest

61
Q

The pharyngeal arches begin forming in what week?

A

4th week (around 22 days)

62
Q

Does the maxillary or mandibular process(es) have delayed growth?

A

Maxillary

63
Q

The first pharyngeal arch gives rise to the….

A

mandible

64
Q

Difference between merging and fusion?

A

Merging: joining of two masses already in contact (joining of maxillary prominences and lateral nasal prominences)
Fusion: joining to distinct masses (joining of maxillary nasal prominences and maxillary prominences)

65
Q

Does a defect in merging or fusion cause cleft lips/palates?

A

defect in fusion

66
Q

In what week do the Maxillary Process, Median Nasal Processes, and Lateral Nasal Processes fuse?

A

6th week

67
Q

The palatal shelves come from….

A

the maxillary processes

68
Q

Cranial neural crest cells primarily determine…

A

facial form/shape

69
Q

In the Quck experiments, facial ectoderm develops into…

A

the beak/dorsal and ventral facial structures

70
Q

What tissue is responsible for adhering during merging and fusion?

A

Ectoderm

71
Q

Can cleft lip lead to defects in enamel and salivary gland function?

A

yes

72
Q

What specific tissue mediates fusion of the palatal shelves?

A

(MEE) Medial Edge Epithelium

73
Q

3 Causes of cleft secondary palate?

A
  1. Poor Growth of Palatal Shelves
  2. Failed Elevation
  3. Failed fusion
74
Q

Does most cartilage convert to bone in the face or the axial skeleton?

A

Axial skeleton (in face it mostly acts as a template)

75
Q

Problems with the mandible are often associated with problems of the…

A

ear

76
Q

The external and middle ear are derived from what pharyngeal arches?

A

1 and 2

77
Q

The inner ear is derived from what pharyngeal arch?

A

3 (thickening of ectoderm aka otic placode)

78
Q

The Hillocks of His are made from what kind of cell?

A

mesenchymal cells

79
Q

The frontal and facial bones are of ____________ origin and and formed by ________________ ossification.

A
  • Neural crest

- intramembranous

80
Q

The parietal bone is of _____________ origin and formed by ______________ ossification.

A
  • mesodermal

- intramembranous

81
Q

Growth plates/centers are found in ______ bones.

A

long (for indirect growth)

82
Q

What kind of control does the body have at growth plates?

A

genetic control

83
Q

In order to preserve shape, parts of bone will receive new bone and parts will resorb is called….

A

V principle of Enlow

84
Q

Where is endochondral growth seen?

A

Cranial face

85
Q

What bone is called the “cranial base”?

A

The sphenoid bone

86
Q

Can you control growth of the sphenoid bone?

A

no

87
Q

This allows volume increase AND displacement in space while while maintaining proper shape of bone.

A

Drift Principle

88
Q

In what cell type does intramembranous ossification occur?

A

vascularized mesenchyme

89
Q

Does the maxilla or mandible have sutural growth?

A

Maxilla (mid palatine suture among others)

90
Q

Are sutures growth centers or growth sites?

A

Growth sites (can be manipulated with force)

91
Q

Are sutures genetically programmed or do they respond to function/force?

A

BOTH!!

92
Q

Until age 7, the main growth of the maxilla is…

A

sutural growth

93
Q

What is the first age of significant dentoalveolar growth?

A

7-8

94
Q

What age range does the maxillar grow rapidly?

A

10-14

95
Q

There is no more bone formation here after the incisors have erupted.

A

incisor region

96
Q

The maxilla does not come forward due to deposition, but by….

A

displacement

97
Q

Once sutural growth is completed by age ______, the primary method of A-P growth comes from the ___________ region.

A
  • 10

- tuberosity

98
Q

Tooth roots can be considered a growth _______ because function will alter bone growth in this area.

A

site

99
Q

Are the condyles of the mandible growth sites or centers?

A

sites

100
Q

Can you make the mandible longer?

A

No

101
Q

Can you alter the direction of mandibular growth?

A

yes

102
Q

Eruption of which arch of teeth expands the maxilla/mandible?

A

Maxillary teeth due to their labial inclination

103
Q

A base pair deletion can lead to a prematurely truncated protein which likely makes a _________ mutation.

A

loss of function

104
Q

Loss of function of the HAPLN1 gene causes….

A

chondrodysplasia

105
Q

What is considered the “gold standard” of gene sequencing? Limited to…

A
  • Sanger Sequencing (gene by gene, exon by exon basis)

- known gene sequences

106
Q

What percentage of the human genome encodes for proteins?

A

1-2% (19,000 genes)

107
Q

What is the most frequent genomic variant?

A

SNVs: single nucleotide variants

108
Q

What is the least frequent genomic variant?

A

Structural changes (aneuploides)

109
Q

NGS can detect _____ and ______ easily.

A
  • SNVs

- CNVs (copy number variants)

110
Q

What are the four steps to the Variant Detection Process?

A
  1. Sequence alignment
  2. Candidate variant identification
  3. Consensus calling
  4. Characterization
111
Q

What genes are associated with osteogenesis imperfecta?

A

COL1A1 and COL1A2

112
Q

What condition is ENAM associated with?

A

Amelogenesis imperfecta

113
Q

PHEX, DMP1, and FGF23 are genes associated with…

A

mineralization defects

114
Q

PAX9 gene is associated wit…

A

hypo/oligodontia

115
Q

Do we know how patterns of differential gene action will affect craniofacial growth?

A

NO

116
Q

The Equilibrium Theory is an example of what part of the Matrix of Craniofacial Growth?

A

Environmental: alveolar bone is highly responsive to altered forces and function

117
Q

What kind of bone do orthodontists have most control over?

A

Dentoalveolar bne

118
Q

T or F: growth sites are at the diaphysis of long bones

A

F (at the epiphysis)

119
Q

What kind of cells are at growth sites that allow it to be manipulated?

A

immature cartilaginous cells (not layered)

120
Q

What gives faster growth, growth centers or growth sites?

A

Growth centers

121
Q

Boys continue growing at the mandible level until age ___.

A

18 or 19

122
Q

Age range for female growth spurts?

A

10-12 but max of 14

123
Q

Age range for male growth spurts?

A

12-14 but up until 17

124
Q

In order to modify growth, you must experience _____.

A

growth

125
Q

What age should the orthodontists look at to determine treatment options?

A

Somatic age (age of the body)

126
Q

What happens to tooth movement in someone post growth spurt?

A

Compensation (tooth movement) but no correction (alveolar remodeling)

127
Q

Average amount of max growth you can stimulate in the mid palatine suture?

A

4-5 mm

128
Q

Which dimension is the primary focus of orthodontists in North America?

A

Anterior-posterior dimension

129
Q

The aspects of an underdeveloped maxilla?

A
  1. not projected enough in AP dimension
  2. not wide enough (transverse)
  3. not low enough, did not descend enough
130
Q

Reverse Pull Head Gear pulls on what suture?

A

zygomatic-temporal suture

131
Q

Head gear slows down growth at the _________ level.

A

tuberosity

132
Q

What is the function matrix?

A

The mix of genetics and the environment in determining craniofacial growth.

133
Q

What is the gonial angle?

A

angle between the ramus and body of the mandible