Craniofacial Clefts

Question 1

Facial development timing

Answer 1

3-8 weeks

Question 2

Most common craniofacial cleft

Answer 2

7

Question 3

Treacher-Collins Syndrome

Answer 3

• Bilateral combination of clefts 6-8
• AD, 1:10,000
• Change in gene on chromosome 5
• coloboma, retraction of lower lid, hypoplasia of lower lid lashes, inferior lateral canthus
• absence of zygomatic arch, hypoplasia of temporalis muscle, ear malformations, absence of lateral inferior orbital rim, hypoplasia of malar bones and mandible
• Trach early because of narrow pharyngeal diameter and mandibular shortening

Question 4

Goldenhar’s Syndrome

Answer 4

• sporadic
• Associated with cleft 8
• prominent frontal bossing, low hairline, mandibular hypoplasia, low set ears, colobomas, bilateral anterior accessory auricular appendages, vertebral abnormalities