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Flashcards in Developmental defects of head and neck Deck (9)
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1

What causes first arch syndrome?

Failure of neural crest cells to migrate into 1st pharyngeal arch

2

Which structures of the head and neck have developmental defects in first arch syndrome?

Eyes

Ears

Palate

Mandible

3

What is an example of a first arch syndrome?

Treacher-Collins syndrome

4

What causes Treacher-Collins syndrome?

Genetic defect
dysfunctional protein
negative effect on neural crest cell migration

5

What is the inheritance pattern of Treacher-Collins syndrome?

Autosomal dominant

6

What causes diGeorge syndrome?

Deletion on chromosome 22

7

Which structures in the head and neck have developmental defects in diGeorge syndrome?

Parathyroid glands

Thymus gland

8

How are the parathyroid and thymus glands affected in diGeorge syndrome?

Absence of parathyroid glands

Congenital thymic aplasia

9

How does diGeorge syndrome affect head and neck development?

Disruption of development of 3rd and 4th pharyngeal pouches
due to disruption of neural crest cells