Section 4 Congenital Anomalies

Question 1

Treacher Collins Syndrome

Answer 1

neural crest cells inhibited from entering first pharyngeal arch -> hypoplasia of mandible and zygomatic bones, external ear abnormalities and lower eyelid abnormalities (1st P. arch)

Question 2

Pierre Robin Sequence

Answer 2

underdeveloped jaw with glossoptosis; leads to restricted airway (1st P. arch)

Question 3

Hemifacial microsomia

Answer 3

normally a unilateral condition affecting the mouth and external ear (1st and 2nd P arch)

Question 4

Goldenhar syndrome

Answer 4

jaw or ear hypoplasia, hyperplasia of sclera, cleft lids, vertebral column abnormalities -> missing or half vertebrae, heart defects (tetralogy of Fallot), urinary tract; cause unknown (1st and 2nd P arch)

Question 5

DiGeorge Anomaly

Answer 5

hypoparathyroidism with hypocalcemia, absent thymus = immune defects, interrupted aortic arch; can be caused by deletion of 22q11

Question 6

Anterior cleft anomalies

Answer 6

failure of the maxillary prominences to close with the nasal prominences or the lip to close with the alveolar prominence of the maxilla; more common in males

Question 7

Posterior cleft anomalies

Answer 7

failure of the palatine process to close; posterior to the incisive foramen; more common in females

Question 8

Congenital hypothryoidism

Answer 8

relatively common in newborns, can lead to neurodevelopmental problems, impaired growth and fertility problems

Question 9

Thryoglossal duct cysts

Answer 9

persistent thryoglossal duct can form cysts which can perforate the neck

Question 10

Ectopic thryoid glands

Answer 10

commonly found at the back of the tongue or along the course of the thryoglossal duct; normally clinically insignificant

Question 11

Pharyngeal cysts

Answer 11

Grooves 2, 3 or 4 form a cyst instead of obliterating

Question 12

Pharyngeal fistulas

Answer 12

when pouch 2 and groove 2 form a fistula that opens to the outer neck normally anterior to the sternocleidomastoid muscle