Congenital Head and Neck Abnormalities

Question 1

What are oro-facial clefts?

Answer 1

This occurs from failure of the maxillary and premaxillary processes to fuse. The defect can run from lip to nostril and so has a spectrum of seriousness. Can also involves the palate ranging from a cleft uvula to the whole hard palate.

Question 2

What are the risk factors for a child to be born with an oro-facial cleft?

Answer 2

Genetics – trisomy 18 and 13
Benzodiazepines 
Antiepileptics 
Rubella
Smoking

Question 3

How can the risks for congenital clefts be reduced?

Answer 3

Quit smoking
Folic acid 5mg per day preconception and during 1st trimester
Avoidance of causative drugs

Question 4

How are oro-facial clefts managed?

Answer 4

Feeding with special teat until surgical repair can occur
Lip at 3 months palate at 6 months
Surgery usually good if unilateral but bilateral lesions will always have lasting defect
Surgery can sometimes require bone grafts from the ileum.

Question 5

What complications can occur from an oro-facial cleft?

Answer 5

Otitis media 
Aspiration 
Post op fistulae 
Poor speech 
Social adjustment reduced if can’t smile and may impact bonding therefore don’t take to NICU where bonding is even more reduced.

Question 6

What is Anopthalmos?

Answer 6

No eyes rare and part of trisomy 18 and 13

Question 7

What is Ectopia lentis?

Answer 7

Glaucoma and poor vision seen with Marfan’s, Ehlers Danlos, homocystinuria

Question 8

What causes congenital cataracts?

Answer 8

Rubella and Down’s syndrome

Question 9

What is coloboma?

Answer 9

Notched iris with a displaced pupil

Question 10

What is micropthalmos?

Answer 10

Small eyes usually due to rubella or genetics

Question 11

What congenital abnormalities can occur with the ears?

Answer 11

Accessory auricles

Deformed ears – Treacher Collins syndrome and low set ears indicative of down’s

Question 12

What is choanal atresia?

Answer 12

Choanal Atresia – blockage in the nose usually caused by bony or soft tissue growth and can cause postnatal cyanotic attacks, nasal catheter won’t pass through the pharynx

Question 13

What is a branchial fistula?

Answer 13

Opening at front of sternomastoid, remnant of 2nd and 3rd branchial pouch

Question 14

What is brachychephaly

Answer 14

Short broad skull due to early closure, indicative of down’s syndrome

Question 15

What is cleidocranial dystenosis

Answer 15

No clavicles, slow skull ossification, no sinuses and a high arched palate.

Question 16

What is craniofacial dystostosis

Answer 16

Tower skull, beaked nose, exophthalmos, fused cervical vertebra so neck is short – Klippel-Feil syndrome.

Question 17

What is craniostenosis

Answer 17

Early closure of sutures resulting in compensatory growth parallele to these sutures. If the growth can’t compensate then there will be raised ICP, visual problems, sleep problems, feeding problems and reduced IQ. This occurs in many different conditions. The frontal suture normally closes between 3-9 months, all others close at 22-29 months.

Question 18

What usually causes hydrocephalus?

Answer 18

Usually occurs as a result of ante or neo -neonatal infection, injury or it can be related to genetics.

Question 19

What causes microcephaly?

Answer 19

Genetic, viral (rubella), hypoxia, x-rays and maternal alcohol