Liz Maas
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Liz Maas
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Defects of development in face, palate, lip, and pharynx (CF 7-8)

Question 1 of 12

1

22q11 is a microdeletion syndrome which includes DiGeorge syndrome and Velocardiofacial syndrome. DiGeorge involves craniofacial malformation, Velocardiofacial involves deficiency of pharyngeal glands, and both involve cardiovascular abnormalities

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 2 of 12

1

Which of the following is correct?

Select one of the following:

  • Impaired development of the first and second pharyngeal arches can cause micrognathia, high palate, low set ears, and middle ear issues

  • Defects of the fourth pharyngeal arch artery can cause disruption of development in the cardiac septum

  • Defects of the third pharyngeal pouch can cause hypocalcemia, impaired T cell functions, or missing t-cells

  • PA and PAA

  • PA and PP

Explanation

Question 3 of 12

1

Mandibulofacial dysostosis is caused by a mutation in TCOF1 which encodes a protein called Treacle. Because it is expressed in the neuroepithelium, its absence leads to increased cell death and decreased proliferation.

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 4 of 12

1

Which of the following is correct?

Select one of the following:

  • Treacher Collins is a mutation or deletion disorder with affected structures mostly being from the first pharyngeal arch

  • Pierre Robin Sequence/Syndrome involves the mostly the first pharyngeal arch and manifests as micrognathia, glossoptosis, and cleft secondary palate

  • Goldenhar syndrome involves abnormal development of only the first pharyngeal arch and usually affects only one side

  • PR/TC

  • PR/TC/GS

Explanation

Question 5 of 12

1

Branchial fistulas occur when the second pharyngeal arch fails to grow caudally over the 3rd and 4th pharyngeal arches. The resultant cysts are often found directly posterior to the sternocleidomastoid muscle

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 6 of 12

1

Which of the following is correct?

Select one of the following:

  • The alae, tip and bridge of the nose, philtrum, and medial upper lip come from the medial nasal prominence

  • The lower lip, chin, and lower jaw come from the mandibular prominence

  • The lateral portion of the upper lip, cheeks, and incisors are derived from the maxillary prominence

  • mandibular and maxillary prominence

  • all of the choices

Explanation

Question 7 of 12

1

Development of the secondary palate occurs after the primary palate via fusion of the palatal shelves. The shelves vertically elongate downwards on either side of the tongue.

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 8 of 12

1

Which is the correct order of secondary plate development?

Select one of the following:

  • formation, fusion, elongation, elevation, horizontal growth

  • formation, elongation, elevation, horizontal growth, fusion

  • formation, horizontal growth, elongation, elevation, fusion

  • formation, elongation, horizontal growth, elevation, fusion

Explanation

Question 9 of 12

1

Cells of the medial epithelial seam undergo apoptosis as they are displaced and extruded prior to ossification of the palate. Ossification only occurs at the primary palate

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 10 of 12

1

Cleft primary palate always comes with cleft lip because of a lack of fusion between the lateral nasal and maxillary prominences. Oblique facial clefts occur due to lack of fusion between maxillary prominence and medial nasal prominences

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 11 of 12

1

Orofacial clefting typically occurs due to deficiencies in size, shape, or contact. The cause is typically multifactorial and occurs most commonly in Indigenous Americans and Asians.

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

Question 12 of 12

1

Midline clefts may occur due to a lack of fusion between medial nasal prominences. Frontal nasal dysplasia occurs in median clefts of the upper lip.

Select one of the following:

  • Both true

  • First true, second false

  • First false, second true

  • Both false

Explanation

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