Craniofacial anomalies

Question 1

Treacher Collins syndrome is AKA?

Answer 1

Mandibulofacial dysosotosis

Question 2

Treacher Collins is caused by a dominant or recessive gene on which chromosome?

Answer 2

Dominant on chromosome 5

Question 3

What is the possible etiology for Treacher Collins?

Answer 3

A disruption in vitamin A metabolism

Question 4

Are those with Treacher Collins mentally hindered?

Answer 4

No

Question 5

Treacher Collins is a combination of facial cleft #?

Answer 5

6, 7, and 8

Question 6

Cleft #6 is?

Answer 6

Downward sloping palpebral fissures, absence of eyelashes, colomboma lateral lower eyelid

Question 7

Cleft #7 is?

Answer 7

Hypoplastic zygoma, microtia, mandibular hypoplasia, middle and inner ear hearing loss, macrostomia

Question 8

Cleft #8 is?

Answer 8

Absent lateral orbital rim

Question 9

Those with treater collins are evaluated at birth for what 3 things?

Answer 9

1. airway adequacy
2. micrognathia
3. maxillary hypoplasia

Question 10

If the cleft is involved in treacher-collins there can be problems with what functions?

Answer 10

Swallowing and eating in general

Question 11

What is the subset of treacher collins we studied?

Answer 11

Nager’s

Question 12

What is seen in Nager’s in addition to normal treacher-collins symptoms?

Answer 12

Upper extremity problems and hypoplasia of the radius, thumbs, and metacarpals

Question 13

Apert syndrome is also known as?

Answer 13

Acrocephalosyndactyly

Question 14

Apert syndrome is caused by a dominant or recessive gene?

Answer 14

Dominant

Question 15

What is the main problem in Apert Syndrome?

Answer 15

Craniosynostosis

Question 16

What is craniosynostosis?

Answer 16

Fused cranial sutures and syndactyly or fused digits

Question 17

Describe what happens to the hands in Apert Syndrome

Answer 17

Spoon shaped as well as feet from fusion of digits 2, 3, and 4. 1 and 5 may possibly be involved as well

Question 18

What other syndromes may involve craniosynostosis?

Answer 18

Crouzon’s and Pfeiffer’s

Question 19

What abnormalities of the face are seen in Crouzon syndrome?

Answer 19

Midface or maxillary hypoplasia

Class 3 skull

Question 20

What abnormalities of the eyes are seen in Crouzon syndrome?

Answer 20

Proptosis
Ocular hypertelorism
Divergent strabismus

Question 21

There is a family history of cleft lip and palate in what percent of cases?

Answer 21

40%

Question 22

What are some possible environmental causes of cleft?

Answer 22

B6 and folic acid deficiencies
Anti-convulsants
Winter conception
older mother

Question 23

Cleft lip is caused by failure of what embryological structures to fuse?

Answer 23

Medial nasal and maxillary prominences

Question 24

What causes cleft palate?

Answer 24

When the vertical palatal shelves fail to flip up during the 6th week of development

Question 25

Abnormalities of what other body parts is associated with cleft palate?

Answer 25

Heart and extremities

Question 26

If a surgeon does an early tissue graft of the palate, what can happen?

Answer 26

A pseudo-class 3 due to scar tissue forming which cannot grow

Question 27

When is surgical lip closure done?

Answer 27

At 3 months or after the baby’s weight has doubled

Question 28

When is palatoplasty done?

Answer 28

6-18 months

Question 29

What can cause a posterior cleft?

Answer 29

Development is normal but the tongue is too large or the vertical growth is not great enough

Question 30

External influences up to what trimester can influence growth

Answer 30

The 1st trimester

Question 31

What teratogens can increase the chance of cleft lip

Answer 31

Smoking, anti-convulsants, depressants, and psychotics