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5 out of 6

Criteria used to diagnose Marfan syndrome?

A Ghent
B McDonald

C Chappell Hill
D Nazer

Ans. A Ghent

GHENT criteria are used for diagnosis (Ref. H 17thPg 2468)

Major criteria

a. Presence of at least four skeletal abnormalities: b. Ectopialentis

c. Dilation of the ascending aorta with or without dissection; d. Duralectasia;

e. A blood relative who meets the same criteria, with or without a DNA diagnosis.

Extra Edge: Molecular defects: (H-18thPg- 3212)

More than 90% of patients clinically classified as having MFS by the “Ghent criteria” have a mutation in the gene for fibrillin-1 (FBN!)

Extra Edge: McDonald criteria used for multiple sclerosis

Nazer criteria for severity of Wilson disease

Chappell Hill criteria are used to classify vasculitis