2/16/16 congenital head and neck anomalies

Question 1

blepharophimosis syndrome

Answer 1

Type 1- epicanthal folds with epicathus inversus, horizontally shortened eyelids, severe ptosis
Type 2 - telecanthus, absense of the epicanthal folds, sever bilateral ptosis, absense of levaotr function, skin shortage
Type 3 - no epicanthal folds, telecanthus, antimongoloid slant, severe ptosis, mild orbital hypertelorism, skin deficiencies

Question 2

Epiblepharon

Answer 2

Excess pretarsal skin and orbic leading to inverted eyelashes irritating the corneas

Question 3

Coloboma

Answer 3

Congenital defect of eyelid, iris, retina, choroid, or optic disk

• palpebral coloboma - can come from local growth disturbance
• other types are due to defective closure of optic fissure

Question 4

Euryblepharon

Answer 4

widening of the palpebral fissue due to shortage of eyelid tissue

Question 5

Cryptophtalmos

Answer 5

embryonic failure of development of eye fold

- can be ass’d with syndactyly, cardiac, facial, and ear defects

Question 6

Branchial arches

Answer 6

1. mandibular

2. Hyoid

Question 7

Brancial grooves

Answer 7

2? for stapes, etc