DiGeorge's and Noonan syndrome Flashcards Preview

Hugh's MD3 Paediatrics > DiGeorge's and Noonan syndrome > Flashcards

Flashcards in DiGeorge's and Noonan syndrome Deck (4):
1

What is DiGeorge's syndrome?

Variable syndrome due by a structural deletion of 22q11 characterised by the presence of a palatal abnormality and conotruncal congenital heart defect

2

How does DiGeorge's syndrome present?

- Palatal abnormality

- Conotruncal congenital cardiac defects - TOF, aortic arch defects, VSD, pulmonary atresia/stenosis, truncus arteriosus

- Classic facial appearance - prominent nasal bridge, narrow nostrils, and a bulbous nasal tip

- Developmental delay, learning disability, social immaturity

- Anxiety and phobias

3

What is Noonan syndrome?

Syndrome of congenital abnormalities including unusual facies, congenital cardiac defect, short stature, and chest wall deformity
- No chromosomal abnormality

4

What are the facial features in Noonan's?

Hypertelorism
Epicanthal folds
Ptosis
Broad forehead
Posteriorly rotated ears
Down-slanting eyes in infancy