Noonan's Syndrome Flashcards
1
Q
What type of inheritance does Noonan’s have?
A
Autosomal dominant
2
Q
What is Noonan’s suspected to be caused by?
A
A defect on chromosome 12
3
Q
What is Noonan’s classed as the male version of?
A
Turner’s syndrome
4
Q
What does Noonan’s present with?
A
The same triad as Turner’s syndrome- Short stature, Neck webbing and widely spaced nipples
5
Q
What are the other features of Noonan’s syndrome?
A
- Broad forehead
- Downward sloping eyes with ptosis
- Hypertelorism (wide space between the eyes)
- Triangular shaped face
- Prominent nasolabial folds
- Low set ears
6
Q
What cardiac problems is Noonan’s associated with?
A
Pulmonary valve stenosis
7
Q
What coagulation problem is Noonan’s associated with?
A
Deficiency in factor 9
8
Q
What sexual problems is Noonan’s associated with?
A
Cryptorchidism
9
Q
What is the main complication of Noonan’s syndrome that patients might require corrective surgery for?
A
Congenital heart disease
