Noonan's syndrome Flashcards
1
Q
inheritance pattern
A
autosomal dominant
2
Q
features
A
short stature broad forehead downward sloping eyes with ptosis hypertelorism prominent nasolabial folds low set ears webbed neck
3
Q
hypertelorism
A
wide space between eyes
4
Q
assoc conditions
A
congenital heart disease cryptochordism learning disabiltity bleeding disorders lymphoedema
5
Q
assoc conditions - cardiac
A
pulmonary valve stenosis
hypertrophic cardiomyopathy
ASD
6
Q
increased risk of
A
leukaemia
neuroblastoma
