Diagnosis of Marfan Syndrome

In her two-part Casebook Appearances Can Be Deceptive Dr Child discussed the misleading mimics and disguised carriers of Marfan syndrome. Today she outlines the means of a definitive diagnosis.

The following are criteria that together may indicate a diagnosis of Marfan syndrome …

Signs and symptoms

Marfan syndrome (MFS) affects a variety of body systems. In particular, cardiac problems are of note in this population, as are skeletal abnormalities (especially the chest and hands), and problems with the eyes and vision. Marfan syndrome does not affect intelligence. The following are common problems in this syndrome (this list is not exhaustive).

Common clinical features of MFS:

Two important clinical features of MFS are the wrist and thumb signs. The presence of these is an indicator for MFS, however these signs can occur on their own in a person who does not have MFS. Testing for them is simple. A thumb sign means that when a person makes a fist over the thumb, the thumb juts out beyond the wrapped fingers. A wrist sign means that a person's little finger and thumb overlap when wrapped around the wrist. These signs are part of the diagnostic criteria for MFS.

Facial features of Marfan syndrome (MFS)

Many people with MFS have a characteristic facial appearance. Many have a long face that is narrow, with underdeveloped cheek bones, a small lower jaw that recedes, and a highly arched palate. Some people also have eyes that appear to slant downward. These features can help with diagnosis, but they do not occur in all patients.

Diagnosis of Marfan Syndrome
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