Wednesday, March 19, 2008


Interesting, huh? (Try it at home!). Upon further examination, this boy's arm span exceeds his height, he has severe scoliosis, and the lens of his eyes are displaced upward.

Challenge: What's the main cause of morbidity and mortality in these patients?

Related Questions:
1. What's shown on the image?
2. What's the diagnosis?

Image shown under fair use.


Alex said...

thought it was ehler-danlos or marfan's. if marfan's, COD is possibly valve prolapse

Craig said...


This is Marfan syndrome. The image shows arachnodactyly with a positive thumb sign (a) such that the entire thumbnail protrudes beyond the ulnar border of the hand and a positive wrist sign (b) so that the thumb and fifth finger overlap when encircling the wrist. Along with the long arm span, scoliosis, and eye findings (ectopia lentis), this indicates Marfan’s. Marfan’s patients are likely to die from aortic root disease leading to aneurysmal dilatation, aortic regurgitation, and dissection.

Sources: UpToDate; (European Journal of Human Genetics; Marfan Syndrome: clinical diagnosis and management by John Dean).