What are the clinical features of Marfan syndrome and how is it diagnosed?
The diagnosis of Marfan syndrome remains a clinical one. There is a wide range of variability in the manifestations of the disease within and among families. Also, many individuals without the syndrome have one or more clinical features that may suggest that they may have Marfan syndrome and can be the reason for referral for work-up for the Marfan syndrome. Such common features include tall and thin stature, heart murmurs or eye problems. Only when patients have a sufficient number of the clinical manifestations of Marfan syndrome can a firm clinical diagnosis be made.
