Orofacial clefts and Neural Tube Defects

Question 1

What is a cleft lip and palate a result of?
When does this form?

Causes?

Answer 1

Failure of fusion of maxillary and premaxillary processes
Week 5

Genes
Benzodiazepines 
Antiepileptics
Rubella
Trisomy 18, 13-15

Question 2

Prevention

Answer 2

Quit smoking
Pre-pregnancy
Folic acid 5mg/day preconception +/- multivitamins

Question 3

What is anophthalmos?

What is it also associated with?

Answer 3

There are no eyes

Part of trisomy 13-15

Question 4

How does ectopia lentis present?

Answer 4

Presents as glaucoma with poor vision

Question 5

What causes cataracts?

Answer 5

Rubella and Downs

Question 6

What is coloboma?

Answer 6

Notched iris with a displaced pupil

Question 7

What is microphthalmos and what is it’s cause?

Answer 7

Small eyes due to rubella/genetic

Question 8

3 deformities of the ears?

Answer 8

accessory auricles - seen infront of the ear
deformed ears
low-set ears - downs and congenital heart disease

Question 9

What is choanal atresia?

Answer 9

the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed recanalization of the nasal fossae during fetal development.

Question 10

What is brachycephaly and cause?

What is cleidocranial dysostosis?

What is craniofacial dysostosis?

Answer 10

Short, broad skull from early closure of the coronal suture

No clavicles

Tower skull, beaked nose, exopthalmos

Question 11

What is hydrocephalus?

What is microcephaly?

Answer 11

A condition where fluid fills the brain

Abnormal the brain does not develop properly, resulting in a shorter-than-normal head.

Question 12

What is Fetal alcohol spectrum disorder?

What does severity depend on?

Features?

Answer 12

Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These effects can include physical problems and problems with behavior and learning.

The amount of alcohol the mother had during pregnancy

Microcephaly
Hypoplastic upper lip
Small eyes
Reduced IQ

Question 13

What is spina bifida?

Hurdles for developing child?

Prevention?

Answer 13

Incomplete vetebral arch if covered by skin.

Urinary and faecal incontinence
Immobility
Social and sexual isolation

Folic acid 0.4 mg daily for first trimester