noonan_syndrome_flashcards
1
Q
What is Noonan syndrome often thought of as?
A
‘Male Turner’s’.
2
Q
What is the inheritance pattern of Noonan syndrome?
A
Autosomal dominant.
3
Q
What karyotype is associated with Noonan syndrome?
A
Normal karyotype.
4
Q
What is the genetic cause of Noonan syndrome?
A
A defect in a gene on chromosome 12.
5
Q
What features similar to Turner’s syndrome are seen in Noonan syndrome?
A
Webbed neck, widely-spaced nipples, short stature, pectus carinatum, and excavatum.
6
Q
What cardiac feature is characteristic of Noonan syndrome?
A
Pulmonary valve stenosis.
7
Q
What are some characteristic facial features of Noonan syndrome?
A
Ptosis, triangular-shaped face, low-set ears.
8
Q
What coagulation problem is associated with Noonan syndrome?
A
Factor XI deficiency.
