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Module 4 > Craniofacial Biology > Flashcards

Craniofacial Biology Flashcards

1
Q

What is Developmental Biology?

A

The study of the processes by which organs grow and develop.

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2
Q

Define mitosis

A

the process by which a cell replicates its chromosomes and then segregates them, producing two identical nuclei in preparation for cell division

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3
Q

Define meiosis

A

a type of cell division in sexually reproducing organisms that reduces the number of chromosomes in gametes

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4
Q

Define apoptosis

A

the process of programmed cell death

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5
Q

In embryology, what is induction?

A

the process in which an undifferentiated cell is instructed by specific organisers to produce a morphogenic effect

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6
Q

What are the 3 stages of prenatal development and their time lines?

A

preimplantation period (first week)
embryonic period (second to eighth week)
fetal period (third to ninth month)

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7
Q

Define the proliferation stage in the embryonic period

A

a physiological process of cell division that occurs in almost all tissues, resulting in an increase of the number of cells.

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8
Q

Define the differentiation stage in the embryonic period

A

the process of development during which embryonic cells specialise and diverse tissue structures arise.

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9
Q

Define morphogenesis in embryonic period

A

the process of development of specific tissue structure or shape

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10
Q

What point in time does the second period (embryonic period) of prenatal development start?

A

beginning of the 2nd week to the end of the 8th week

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11
Q

what physiological processes make up the embryonic period?

A

induction
proliferation
differentiation
morphogenesis
maturation

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12
Q

What is the purpose of the 5 processes of embryonic period?

A

cause the structure of the implanted blastocyst to become, with further development, an embryo.
they also allow the teeth, orofacial structures and other organ structures to develop in the embryo

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13
Q

Define cytodifferentiation

A

the development of different cell types

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14
Q

Define histodifferentiation

A

the development of different histologic tissue types within a structure

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15
Q

Define morphodifferentiation

A

the development of the differing morphology, which makes up its structure or shape, for each organ or system

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16
Q

When does the bilaminar embryonic disc develop from the blastocyst?

A

second week

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17
Q

when does the trilaminar embryonic disc develop from the bilaminar disc

A

third week

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18
Q

What week of prenatal development does the disc undergo embryonic folding?

A

week 4

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19
Q

Tissue interactions appear to be associated with atleast 2 general types of phenomena, what are they?

A

Instructive
Permissive

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20
Q

What is organogenesis?

A

the production and development of the organs of an animal or plant

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21
Q

define instructive tissue interactions

A

the ability of one tissue to determine specific patterns of morphogenesis and differentiation that will develop in an associated tissue. (tells other tissues what to do)

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22
Q

Define permissive tissue interactions

A

the ability of an interacting tissue to provide certain conditions that is necessary for its committed partner tissue to progress to full expression of its predetermined phenotype. (drives the devlopment of tissue)

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23
Q

an organ starts as an epithelial placode

placodes are embryonic structures that give rise to structures.

epithelial placode is a condensation of which germ layer

A

epithelial placode is a condensation of the ectoderm layer

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24
Q

What are the 3 distinct regions of the embryonic origins of the skull?

A

desmocranium
chondrocranium
viscerocranium

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25
Q

When does the posterior fontanelle close?

A

The posterior fontanelle usually closes by age 1 to 2 months
It may already be closed at birth

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26
Q

When does the anterior frontanelle close?

A

The anterior fontanelle usually closes sometime within 7 to 19 months

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27
Q

What are fontanelles?

A

soft spots on an infant’s head where the bony plates that make up the skull have not yet come together

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28
Q

What is craniosynostosis?

A

A group of disorders where there is a premature fusion of the sutures

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29
Q

What is Apert syndrome?

A

Brain is expanding at the front and back instead of transversely due to the premature fusion of the lambdoid and coronal sutures

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30
Q

What is turricephaly?

A

Turricephaly (Tower Head) is a descriptive term for a distinctive head shape often observed in children with syndromic forms of craniosynostosis, in particular, those with Apert syndrome

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31
Q

What is crouzon syndrome?

A

A type of craniosynotosis
Prevents the brain expanding resulting in protrusion of the eyes and expansion of the front area of the skull

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32
Q

What is plagiocephaly?

A

Due to premature sagittal and coronal fusion
The head is flattened on one side, causing it to look asymmetrical

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33
Q

What is Trigonocephaly?

A

premature closure of the metopic suture causing the inability of the frontal bones to grow laterally, thus forming a triangular forehead with an obvious or subtle osseous ridge

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34
Q

What is cloverleaf skull?

A

an abnormal configuration of the calvaria classified as craniosynostosis, consisting of premature ossification of cranial sutures

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35
Q

What is Treacher Collins Syndrome (TCS)?

A

A disorder of craniofacial development which effects the way the face develops,

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36
Q

What causes TCS?

A

the abnormal formation of the first and second branchial arches during 5-8th weeks of human fetal development, leading to profound facial dysmorphism

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37
Q

TCS is both genetically and phenotypically heterogenous, true or false?

A

True

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38
Q

What type of TC0F1 mutation, leading to TCS ,is the majority of cases?

A

Deletions

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39
Q

The loss-of-fuction mutations in which gene is responsible for most cases of TCS?

A

TCOF1

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40
Q

What may the TC0F1 mutations result in which is small and functional?

A

truncated treacle protein

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41
Q

What protein does TCOF1 encode for?

A

Treacle

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42
Q

Less common mutations in which genes can cause TCS

A

POLR1D and POLR1C

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43
Q

What do POLR1D and POLR1C encode for?

A

subunits of the enzymes RNA polymerase I and III, important in RNA synthesis

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44
Q

what is the importance of the treacle protein?

A

it is active during early embryonic development in structures that become bones and other tissues in the face.
it also plays a key role in pre-ribosomal processing and the making of the ribosome

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45
Q

What facial bones are most affected by TCS?

A

Underdeveloped cheek bones, eye sockets, small jaw and chin (micrognathia)

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46
Q

What facial features can be seen in someone with TCS?

A

eyes that slant downwards, sparse eyelashes, eyelid coloboma

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47
Q

What is the main concern in newborn TCS patients?

A

respiratory failure due to airway narrowing from craniofacial malformation

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48
Q

Which gene mutation involved in TCS are inherited via an autosomal pattern (not a sex chromosome)

A

TC0F1

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49
Q

What is the chondocranium also known as?

A

cranial base

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50
Q

When does the development of the head, face and oral cavity usually take place and end?

A

Starts around week 4
Usually finishes around week 10

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51
Q

What is the pharyngeal apparatus?

A

It is made up on the arch, the clefts (grooves), pouches and membranes and gives rise to muscle, cartilage, nerve and blood supply

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52
Q

What are the 4 fundamental aspects of developmental biology?

A

Proliferation/Growth size
Pattern formation
Morphogenesis - shape
Differentiation - type

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53
Q

What is pattern formation?

A

The cells differentiating into the correct tissues and the right place

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54
Q

What are dynamic, reciprocal and sequential interactions?

A

Sequentially - they happen at a specific time
Reciprocal - one cell will control what happens to another and vice versa
Dynamic - Happens between 4-10 weeks (very quick)

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55
Q

What are signalling centres?

A

the organiser of whats going to occur in that place

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56
Q

What is the signalling gradient?

A

Only at the right points will the cells make a tissue

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57
Q

What is true fusion?

A

2 things at either sides of the head need to fuse together, eg. palate fusion

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58
Q

What is cell migration?

A

Cells move into the area in order to produce what they need to

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59
Q

How many primary germ layers are there and what are they

A

3
Ectoderm
Mesoderm
Endoderm
Neural crest/Ecto-mesenchyme (not a true layer)

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60
Q

What is the ectoderm layer?

A

The outer most layer, gives rise to the skin and neural tube
Comes from the epiblast layer

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61
Q

What is the mesoderm layer?

A

Layer in between the ectoderm and endoderm
Forms from migratory cells of the epiblast layer
Forms just about everything else

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62
Q

What is the endoderm layer?

A

Innermost layer of the 3 primary germ layers
Forms the gut
Comes from the hypoblast layer

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63
Q

When do the branchial arches start to develop?

A

days 24/25

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64
Q

What effects how the branchial arches differentiate into different tissues?

A

The spinal column

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65
Q

What does pharyngeal arch 1 give rise to?

A

the mandible and maxilla (lower part of face)
Meckel’s cartilage

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66
Q

What does pharyngeal arch 2 give rise to?

A

Reichart’s cartilage

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67
Q

What is the purpose of Meckel’s cartilage?

A

Acts as a jaw support during early development and a template for the later forming bones
By week 20 there are only remnants of it left

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68
Q

What is the stomatodeum?

A

a depression between the brain and the pericardium in an embryo
This forms the oral cavity

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69
Q

When does the pharyngeal arches formation begin?

A

4th and 5th week

70
Q

When does the pharyngeal arches formation begin?

A

4th and 5th week

71
Q

What is the reason for the difference in each pharyngeal arch?

A

Because you get different neural crest cells, these are what migrate into the heck and neck region to form these arches

72
Q

What are the 5 pharyngeal arches?

A

I - Mandibular arch
II - Hyoid arch
III
IV
VI

73
Q

What are the 5 pharyngeal arches?

A

I - Mandibular arch
II - Hyoid arch
III
IV
VI

74
Q

What does the pharyngeal arches consist of?

A

Ectoderm - outside
Endoderm - inside (except 1st arch- its a continuation of ectoderm)
Cartilage
Blood vessels and Nerve
Muscle

75
Q

What is the name of the 1st arch?

A

Mandibular arch

76
Q

What does the 1st arch give rise to?

A

mandibular and maxillary processes
Body of tongue
muscles of mastication
trigeminal nerve
maxillary and carotid arteries
meckel’s cartilage

77
Q

What does reichart’s cartilage give rise to?

A

stapes
lesser horn, superior hyoid body
styloid process, stylohyoid ligament

78
Q

When does Meckel’s cartilage dissapear and what is it replaced by?

A

week 20, it is replaced by bone

79
Q

What is the name of the 2nd arch?

A

hyoid arch

80
Q

What is the cartilage present in the 2nd arch known as?

A

Reichart’s cartilage

81
Q

What does the 2nd arch give rise to?

A

Muscles of facial expression
thryoid gland and tonsils
facial nerve
reichart’s cartilage

82
Q

What does meckel’s cartilage give rise to?

A

forms 2 bones: incus, melleus
forms 2 ligaments: sphenomandibular, sphenomelleolar

83
Q

What does the 3rd arch form?

A

greater horn of hyoid
inferior hyoid body
root of tongue
stylopharyngeus muscle
glossopharyngeal nerve

84
Q

What does the 4th arch form?

A

thyroid cartilage
pharynx and epiglottis
soft palate muscles
pharyngeal constrictor muscles
vagus nerve

85
Q

what happens to the 5th arch?

A

rapidly disappears

86
Q

what does the 6th arch form?

A

cricoid + arytenoid cartilages
larynx
muscles of larynx
vagus nerve

87
Q

What happens to the 2nd-6th clefts?

A

they disappear as their obliterated by the proliferation of the second arch as it basically grows over the top of it
forms hyoid operculum

88
Q

Where do the pouches form?

A

between the arches

89
Q

what does the first pharyngeal pouch give rise to?

A

middle ear

90
Q

what does the 2nd arch pouch give rise to?

A

palatine tonsil

91
Q

what does the 3rd arch pouch give rise to?

A

inferior parathyroid gland

92
Q

what is formed between pouch 3 and 4?

A

thymus

93
Q

what does the 6th arch pouch give rise to?

A

superior parathyroid gland

94
Q

what does the 1st pharyngeal groove/cleft form?

A

external auditory meatus

95
Q

what obliterates all grooves by week 4/5?

A

cervical sinus as the neck develops

96
Q

where do the pharyngeal membranes appear?

A

the floor of the pharyngeal grooves

97
Q

What causes branchial fistula/cyst?

A

failure of the 2nd arch growing down sufficiently over 2nd-4th clefts

98
Q

What is the fronto nasal process?

A

prominence in the upper facial area at the most cephalic end of the embryo

99
Q

What is the cephalic end?

A

Head end of a structure such as the trilaminar embryonic disc

100
Q

What is the mandibular processes?

A

Processes of first branchial arch that fuse at the midline to form mandibular arch

101
Q

what is the mandibular arch?

A

lower dental arch with mandibular teeth or the 1st branchial/pharyngeal arch inferior to the stomodeum in the embryo

102
Q

what is the maxillary processes?

A

prominence from mandibular arch that grows superiorly and anteriorly on each side of the stomodeum of the embryo

103
Q

What is the maxillary arch?

A

upper dental arch in which the maxillary teeth form

104
Q

what is the nasal placode?

A

placodes that develop into olfactory organ for the sensation of smell located in the mature nose

105
Q

what is a placode?

A

area of ectoderm found at the location of the developing special sense organs on the embryo

106
Q

what do the maxillary processes give rise to?

A

the maxillary arch

107
Q

when is the basic morphology of the face established by the joining of the 5 prominences?

A

between week 4 and 10

108
Q

What is the stomodeum?

A

Mouth development begins with the formation of the stomodeum (mouth pit)
Its an ectodermal depression around which the facial primordia grow and extend to create the oral cavity.

109
Q

On day 26, maxillary procceses start to grow across and out, what happens to the mandibular process?

A

the groove is going to start to get less because the proliferation in the centre pushes outwards, therefore rather than there being 2 processes there’s one long process

110
Q

what are placodes?

A

round areas of thickened ectoderm which will develop into special sense organs

111
Q

what gives rise to the nasal pit?

A

nasal placodes

112
Q

During week 7 the ectoderm at the floor of this groove invaginates into the underlying mesenchyme to form a tubular structure called what?

A

nasal lacrimal duct and lacrimal sack

113
Q

what is the nasal lacrimal duct?

A

invested by bone during ossification and the maxilla
after birth it functions to drain excess tears from the conjunctivca of the eye into the nasal cavity

114
Q

when do we have the formation of basic nose structure?

A

end of week 6

115
Q

When does true fusion of the medial nasal process and inter maxillary process take place giving rise to the intermaxillary segment?

A

end of week 7

116
Q

what does the intermaxillary process give rise to?

A

philtrum and then later the primary palate

117
Q

how many teeth will the primary palate consist of?

A

4 incisor teeth

118
Q

what is macrostomia?

A

a congenital deformity resulting from failure of fusion of maxillary and mandibular process

119
Q

what can too little fusion cause?

A

macrostomia
large mouth

120
Q

what is microstomia?

A

a condition with a small sized-mouth that results in functional impairment such as difficulty with food intake, pronunciation, and poor oral hygiene and cosmetic problems

121
Q

what can too much fusion cause?

A

microstomia
small mouth

122
Q

what happens in week 4 of formation of the face?

A

primitive stomodeum bounded by fronto nasal process, maxillary and mandibular process
nasal placodes develop into nasal pits

123
Q

what happens in week 5 of formation of the face?

A

nasal pit is surrounded by lateral and medial nasal prominence

124
Q

what happens in week 6/7 of formation of the face?

A

medial nasal prominences fuse together and fuse with maxillary processes

125
Q

what does the frontonasal contribute to the face?

A

forehead
bridge of nose

126
Q

what does the medial nasal contribute to the face?

A

philtrum of the lip
crest and tip of nose

127
Q

what does the lateral nasal contribute to the face?

A

alae of nose

128
Q

what does the maxillary contribute to the face?

A

cheeks
lateral upper lip

129
Q

streams of what migrate to form areas like the secondary palate?

A

mesenchyme

130
Q

when is the first sign of tooth development?

A

week 6

131
Q

how does tooth bud formation occur?

A

thickening of the epitheial band

132
Q

what happens to the mesenchyme in order to form cartilage?

A

condensation
mesenchymal cells will differentiate into chondroblasts to start to form the cartilage of the nose

133
Q

what is the purpose of mesenchymal condensation?

A

turn into chondroblasts which act as the primary support for the developing maxilla and will form the cartilages of the cranial bases

134
Q

what is the difference between mesenchyme cells and ectomesenchyme cells?

A

Mesenchyme contains loose cells that migrate easily to form the ground tissue of collagen, and bone and cartilage tissue while ectomesenchyme contains neural crest cells and forms the tissues of neck and cranium

135
Q

when is the maxilla bone formed?

A

6-7th week

136
Q

when is the maxilla bone formed?

A

8th week

137
Q

when is the palate and nasal capsule bone formed?

A

8th week

138
Q

what are the 2 methods of osteogenesis?

A

intramembranous
endochondral

139
Q

what is intramembranous ossification?

A

formation of an osteoid within 2 dense connective tissue sheath sheets, which then eventually replaces the connective tissue
During intramembranous ossification, mesenchymal cells differentiate into osteoblasts from osteoid

140
Q

what is endochondrial ossification?

A

the mesenchymal cells start to grow around the side of the cartilage and deposit around that

141
Q

what is cartilage made of?

A

chondroblasts
chondrocytes

142
Q

what are the 3 types of cartilage?

A

hyaline
fibrocartilage
elastic

143
Q

what are the 3 main functions of cartilage?

A

forms the supporting framework
forms articulating surface of bones
forms template for growth and development

144
Q

what connective tissue growth factor is involved in meckel’s cartilage development?

A

CCN2

145
Q

What are the 3 mandibular secondary cartilages?

A

condylar
coronoid
symphyseal

146
Q

when does the formation of the palate start and finish?

A

starts at around week 6
finished by week 12

147
Q

what is the purpose of the primary palate?

A

demarcates the oral and nasal cavities

148
Q

what does the primary palate give rise to?

A

anterior 1/3 of the hard palate

149
Q

what does the secondary palate give rise to?

A

posterior 2/3 of the hard palate

150
Q

what happens in week 7/8 of palate fusion?

A

mesenchymal cells differentiate into osteoblasts

151
Q

what is is the purpose of the secondary palate?

A

separates nasal airway and oral cavity

152
Q

what week do mesenchymal cells migrate in to form nasal septum and palatal shelves

A

week 6

153
Q

when does the tongue withdraw townwards allowing palatal shelves to flip up into the horizontal orientation?

A

beginning of week 8, depending on gender, sometimes sooner in males

154
Q

why does the tongue withdraw during palatal development?

A

due to the head lifting from the cardiac plate

155
Q

what are the 2 theories behind palatal shelf elevation?

A

forces extrinsic to the palate - e.g the tongue
intrinsic forces generated within the palate

156
Q

when do the palatal shelves start to touch?

A

end of week 8

157
Q

how long does the zipping action take from the front to the back of the oral cavity?

A

4 weeks

158
Q

what is left at the midline once the shelves have migrated and met in the middle?

A

a group of midline epithelial cells

159
Q

why do the shelves not fuse with the epithelia of the tongue?

A

because the glycoproteins of the tongue are different than the palatal shelves and epithelium only sticks to the same epithelium

160
Q

what are the 3 theories on how the midline cells disintegrate?

A

epithelial-mesenchyme transition
apoptosis
migration

161
Q

explain the epithelial-mesenchyme transition

A

a set of epithelial cells don’t need to be epithelial cells anymore, mesenchymal cells job is to make the matrix of the upper palate, rather than make the cells redundant, you make them into mesenchymal cells. Some evidence of this transition to happen.

162
Q

explain the apoptosis theory behind palate fusion?

A

programmed epithelial cells to die off, they’ve done their job, and aren’t needed anymore so they are just going to die off.

163
Q

Explain the migration theory behind palate fusion?

A

The cells migrate towards the nasal or oral edge, moving out from the midline, where they just become epithelial cells.

164
Q

failure of fusion can lead to what?

A

cleft palate

165
Q

what is epithelial remnants?

A

some of the epithelial cells either don’t migrate, die off or transition into mesenchymal cells, can cause epithelial cell rests, this causes pain in roof of mouth

166
Q

is cleft palate more common in males or females and why?

A

females
due to process starting one week later

167
Q

The confluence of sagittal and lambdoid sutures at the back of the skull make up what?

A

posterior fontanelles

168
Q

The confluence of the sagittal, coronal and frontal sutures make up what?

A

anterior fontanelles

169
Q

when does the posterior fontanelle close?

A

3-6 months postnatally

170
Q

when does the anterior fontanelle close?

A

1.5-2yrs postnatally

Module 4 (9 decks)

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