Flashcards in DiGeorge's and Noonan syndrome Deck (4):
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
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
What is Noonan syndrome?
Syndrome of congenital abnormalities including unusual facies, congenital cardiac defect, short stature, and chest wall deformity
- No chromosomal abnormality