Cardiology>>>>>Genetics, Lipids And Tumours
Question 5#

You are reviewing a 17-year-old girl who has been transferred from the paediatric service. She had pulmonary stenosis treated in infancy. She has learning difficulties and facial dysmorphism.

Which one of the following is not in the differential diagnosis?

A) Holt–Oram syndrome
B) Noonan syndrome
C) 22q11 microdeletion syndrome
D) Loeys–Dietz syndrome
E) Costello syndrome

Correct Answer is A

Comment:

Holt–Oram syndrome causes septal defects, AV node disease, and radial ray abnormalities, but not pulmonary stenosis. In addition, it is not associated with learning difficulties.