genetics

Question 1

marfans syndrome features

Answer 1

Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures

Question 2

heart conditions assoc w marfans syndrome

murmurs

Answer 2

Mitral valve prolapse (with regurgitation)
- PAN-SYSTOLIC
Aortic valve prolapse (with regurgitation)
- early diastolic

aortic aneurysms / dissections

Question 3

conditions assoc w marfans

Answer 3

ANTERIOR Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
Gastro-oesophageal reflux

Question 4

what is klinefelter’s syndrome

Answer 4

XXY

Question 5

what does klinefelter’s syndrome present w

Answer 5

tall stature
hypogonadism
gynaecomastia
delayed puberty

Question 6

which protein has a defect in marfan’s syndrome

Answer 6

fibrillin

Question 7

what is the mutation in ehler-danlos

Answer 7

collagen (most commonly type III)