DiGeorge's and Noonan syndrome

Question 1

What is DiGeorge’s syndrome?

Answer 1

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

Question 2

How does DiGeorge’s syndrome present?

Answer 2

• 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

Question 3

What is Noonan syndrome?

Answer 3

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

Question 4

What are the facial features in Noonan’s?

Answer 4

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