5 doctors weighed in:

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

5 doctors weighed in
Dr. Robert Kwok
Pediatrics
3 doctors agree

In brief: Several features

Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc.
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In brief: Several features

Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc.
..
Dr. Robert Kwok
Dr. Robert Kwok
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Dr. Steven Neish
Pediatrics - Cardiology

In brief: Ghent criteria

Marfan syndrome is a genetic abnormality of fibrillin, a component of connective tissue.
X-rays typically are necessary to diagnose marfan syndrome. There are several skeletal abnormalities associated with marfan syndrome. The marfan foundation website has much helpful diagnostic information. http://www.marfan.org/resources/professionals/marfandx.

In brief: Ghent criteria

Marfan syndrome is a genetic abnormality of fibrillin, a component of connective tissue.
X-rays typically are necessary to diagnose marfan syndrome. There are several skeletal abnormalities associated with marfan syndrome. The marfan foundation website has much helpful diagnostic information. http://www.marfan.org/resources/professionals/marfandx.
Dr. Steven Neish
Dr. Steven Neish
Thank
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