Marfan syndrome #2
Welcome to the ophthalmology clinic at WRAMC. As an
MS IV you are seeing patients with the Senior Resident.
In the afternoon clinic, you are asked to see the first
patient, to obtain a complete history, and to formulate
a differential diagnosis. The patient is a 14-year-old
female referred to you because of "lens dislocation"
noted by the school optometrist. Her mother is with
her and notes that the family history is significant
for several features. The father of the patient was
recently diagnosed with a dilated aorta noted on echocardiogram.
Of note, he is 6 feet 5 inches in height, has long,
thin fingers, and marked joint laxity.
You record the family history by constructing a three-generation
pedigree (as taught in your genetics seminar).
When asked by the senior resident to formulate an opinion
about what is causing the patient’s findings you
identify Marfan syndrome (154700) as likely. In the
differential diagnosis you list Homocystinuria (236200),
Beals contractural arachnodactaly (121050), and Stickler
syndrome (108300).
Go to OMIM:
- Search the OMIM database for: Marfan Syndrome
- Look up clinical synopsis, text, genetic defect
and treatment of MS gene.
- Identify the clinical features, the gene location
and protein product, differential diagnosis and recommendations
for patient evaluation.
To ascertain information about genetic testing for
Marfan syndrome you choose an on-line resource (www.genetests.org).
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