Discussion in 'Spot Diagnosis' started by J.P.C. Peper, May 30, 2012.
What's your diagnosis?
I'll post the correct answer in a few days!
marfan syndrom ___ longation of the extremities --may associated with muscle wasting - defect in collagen cartilage - aortic dissection .......
marfan, I think so.
Yes, it's Marfan syndrome, a genetic disorder of the connective tissue.
Characteristics are clearly visible: dolichostenomelia (very long limbs) and arachnodactyly (long fingers and toes) fit the disease perfectly. Other complications include mitral valve prolaps, aortic aneurysm, pes planus and lens dislocation.
Separate names with a comma.