Marfan Syndrome #2
As a fourth year medical student you are attending the
Pediatric Cardiology clinic. Your first patient of the
morning is a 5-year-old child with a chest concavity,
dislocated lenses of the eye, and a heart murmur. You
consider these features and make a presumptive diagnosis
of Marfan syndrome (154700). You ask the parents about
the family history and note that the mother’s
side of the family is not remarkable. However, on the
father’s side of the family, there are numerous
relatives with heart problems. The father is not unusually
tall (5’ 9") and has no heart or eye problems.
However, the father’s brother developed aortic
dilation and insufficiency at age 41, was 6’7"
tall, and had a lean build with joint laxity.
The cardiology fellow asks you several questions about
Marfan syndrome. In order to learn about this condition
you search OMIM
– On-Line Mendelian Inheritance in Man. You discuss
a differential diagnosis and the clinical features required
for diagnosis.
Go to OMIM:
- Search the OMIM database for: Marfan Syndrome
- Look up clinical synopsis, text, genetic defect
and location of MS gene.
To ascertain information about genetic testing for
Marfan syndrome you choose an on-line resource (www.genetests.org).
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