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Anat 2050 > 1. Craniofacial development > Flashcards

1. Craniofacial development Flashcards

1
Q

Proportion of babies with craniofacial defects

A

1/700

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2
Q

Holoprosencephaly results in

(4)

A
  1. Nasal proboscis
  2. Failure of telencephalon to bifurcate
  3. Loss of nasal Septum
  4. Cyclopoeia
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3
Q

What defect?

A

Holoprosencephaly

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4
Q

Causes of Holoprosencephaly in live births

(5)

A
  1. Congenital ~25%, otherwise environmental
  2. Diabetic Mothers
  3. Alcohol
  4. Aspirin
  5. 3rd week infection with virus (siphilis, rubella, herpes)
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5
Q

Causes of Holoprosencephaly in embryo

3

A
  1. 45% trisomy (X18 or X13)
  2. Cyclopamine as SHH antagonist on PITCH1 receptor
  3. Mutation of DISP1, SHH, PTCH1,GLI1
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6
Q

DISP1 activates

A

Sonic Hedgehog is activated by

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7
Q

Sonic Hedgehog agonises

A

PTCH1

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8
Q

GLI1 is a transcription factor activated by

A

PTCH, a surface receptor

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9
Q
  • The major cause of mental retardation in the western world
  • I/500 live births
A

Foetal alcohol syndrome

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10
Q

Foetal alcohol syndrome involves

5

A
  1. Thin upper lip
  2. Rounded, indistinct philtrum
  3. Small Palpebral fissures
  4. Epicanthal folds on upper eyelid
  5. microcephaly and micrognathia
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11
Q

Palpebral fissures

A

eyelids

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12
Q

Philtrum

A

bifid structure between the septum and the lips

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13
Q
A

A. neurocranium

B. Chondrocranium

C. Viscerocranium

  1. Auditory ossicles (maleus, incus, stapes)
  2. Lambdoid stuture
  3. Alisphenoid
  4. Occipital Squama
  5. Coronal Stuture
  6. Posterior Fontanelle
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14
Q

Neurocranium includes

A
  1. Frontal
  2. Parietal

Intermembranous ossification

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15
Q

Viscerocranium

A
  1. Maxilla
  2. Mandible
  3. Ear Ossicles
  4. Styloid Process
  5. Hyoid
  6. Laryngeal cartilages
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16
Q

Chondrocranium includes

A
  1. Ethmoid
  2. Sphenoid
  3. Occipital

Endochondrial ossification

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17
Q

Bone fomation process?

A
  1. Endochondrial
  2. Intramembranous
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18
Q

Craniosynostis, common types

2

A
  1. Sagittal 40%
  2. Coronal15%
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19
Q

Which malformation?

3

A
  1. Apert
  2. Crouzon
  3. Pfeiffer
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20
Q
  1. Congenital craniostynosis syndrome cases / all craniostynosis =
A

~30%

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21
Q

Congenital Craniostynosis syndromes and FGFR receptor mutations.

4

A
  1. Muenke FGFR3
  2. Apert FGFR2
  3. Crouzon FGFR3 & FGFR2
  4. Pfeiffer FGFR1 & FGFR2
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22
Q

FGFR mutations

A
  1. Are dominant
  2. Overly high affinity for FGF
  3. Early ossification of intramembranous stuture
23
Q

Ectoderm -> Cleft

Endoderm -> ?

A

Ectoderm -> Pouch

Endoderm -> ?

24
Q

Ectoderm -> Pouch

Endoderm -> ?

A

Ectoderm -> Cleft

Endoderm -> ?

25
Q

Cranial Neural crest: What parts?

A
  1. Midbrain
  2. Forebrain
  3. Frontonasal Process
  4. Pharyngeal arches
  5. Otic Vesicle (inner ear)
26
Q

1st Pharyngeal arch: which origins?

A
  1. Paraxial Mesoderm
  2. Cranial Neural Crest cells
27
Q

Neural crest contributes to

6

A
  1. Neurons and glia of the brain - which?
  2. Bones of Neurocranium, Chondrocranium and viscerocranium
  3. Tooth odontoblasts
  4. Facial connective tissue
  5. Pulmonary trunk
  6. Septation of aorta
28
Q

Pharyngeal arches

A
  1. Frontonasal process
  2. Maxilliary process
  3. Hyoid Process
  4. Mandibular process
  5. 24 days
29
Q

Facial Development

A
  1. frontonasal process
  2. Medial nasal plactode (of fnp)
  3. lateral nasal plactode (of fnp)
  4. Maxilliary prominences
  5. Mandibular prominences
  6. Intermaxilliary process
  7. bridge of nose and philtrum

a = 6

b = 7

c = 10

30
Q

bifid nose

A

result of the incomplete fusion of the medial nasal prominences

  • orbital hypertelorism
  • notched nasal tip or divided nostrils
  • deficit in midline frontal bone
31
Q

orbital hypertelorism

A

eyes are too far apart

32
Q

Cleft lips

  1. Incidence
  2. Reason
  3. Varieties and proportion
  4. Association with cleft palate
A
  1. 1/1000
  2. Failure of maxilliary swellings to fuse with intermaxilliary process. Cause of this unclear
  3. Unilateral 90%, Bilateral 10%
  4. 50% concur with cleft palate.
33
Q

Palate formation

A
  1. Primary Palate
  2. Palatine shelves
  3. Maxilliary Prominences
  4. Nasal septum
  5. Nasal Chambers
  6. Tongue
34
Q

Primary palate

A

Formed by an extension of the intermaxilliary process, fusing with the palatine shelves

35
Q

Palatine shelves

A

Grow medially from the maxilliary prominences

Initially grow beneath the tounge, then rise to meet at the midline above along with the nasal septum.

36
Q

Nasal septum

A

Separates the left and right nasal chambers

37
Q

Hard Palate

A

Formed by the endochondrial ossification of the lower half of the palate

38
Q

Cleft palate

  1. Incidence
  2. Association with cleft lip
  3. Causes (3)
A
  1. 1/2000
  2. 50%
  • inadequate growth of palatine shelves
  • palatine shelves fail to elevate above the tongue
  • head excessively wide
39
Q

Palate fusion

A

Occurrs during week 7-10

40
Q

Fate of pharyngeal Cartilages

Arch 1

3

A
  1. Alisphenoid
  2. Malleus
  3. Incus
41
Q

Fate of pharyngeal Cartilages

Arch 2

4

A
  1. Stapes
  2. Styloid Process
  3. Stylohyoid ligament
  4. Lesser Cornu of Hyoid
42
Q

Fate of pharyngeal Cartilages

Arch 3

2

A
  1. Body of hyoid
  2. Greater cornu of hyoid
43
Q

Fate of pharyngeal Cartilages

Arch 4

2

A
  1. Thyroid cartilage
  2. Cricoid Cartilage
44
Q

Fate of pharyngeal muscles

Arch 1

4

A
  1. Temporalis
  2. Masseter
  3. Mylohyoid
  4. Anterior Belly of digastric
45
Q

Fate of pharyngeal muscles

Arch 2

6

A
  1. Temporalis
  2. Orbicularis Oculi
  3. Orbicularis Oris
  4. Auricularis
  5. Masseter
  6. Posterior Belly of digastric
46
Q

Fate of pharyngeal muscles

Arch 3

1

A
  1. Stylopharyngeus
47
Q

Fate of pharyngeal muscles

Arch 4

A
  1. Middle Constrictor of Larynx
  2. Inferior constrictor of Larynx
  3. Cricothyroid muscles
48
Q

Pharyngeal Cleft fates

4

A
  1. External Auditory Meatus
  2. Enclosed by outgrowth of 2nd arch
  3. Enclosed by outgrowth of 2nd arch
  4. Enclosed by outgrowth of 2nd arch
49
Q

Pinna

A

Fromed from six auricular hillocks

Three from first and three from second pharyngeal arches

50
Q

Pharyngeal Pouches’ fate

A

Endoderm patterns the identity of each pouch.

  1. Internal Auditory tube and primary tympanic recess
  2. Palatine tonsil
  3. Inferior Parathyroid gland and thymus
  4. Superior Parathyroid gland and ultimobranchial bofy
51
Q

Thryroid is made from

A

Endoderm at the base of the pharynx

52
Q

Treacher Collins Syndrome

  1. Incidence
  2. Reasons
  3. Features (5)
A
  1. 1/50,000 births
  2. Growth in 1st & 2nd Pharyngeal arches is limited
  3. .
  • Hypoplasia of the mandible, zygomatics, outer and middle ear
  • Downward slant of palpebral fissures
  • Notching of the lower eyelids
  • Paucity of eyelashes
  • High Palate, usually cleft
53
Q

Treacher collins incidence

Inheritance : New Mutations

A

4:6

54
Q

Treacher Collins

  1. Trait type
  2. gene
  3. Gene’s protein function (3)
A
  1. Autosomal Dominant: penetrance variable; 60% of cases the result of new mutations.
  2. Caused by various mutstions in TCOF1, a gene which codes the protein “treacle”
  3. Treacle is involved in ribosomal biogenesis
  4. Strongly expressed in the neural folds and pharyngeal arches of embryos
  5. With defective treacle, cranial neural crest sees reduced mitosis and increased apoptosis.
  6. Therefore facial defects occurr due to a lack of material.

Anat 2050 (17 decks)

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