defining characteristics
Extremely tall (arm span longer than height), long fingers, dilated aortic root, ectopia lentis-dislocated lens, pectus carinatum OR pectus excavatum
disease development
Connective tissue disorder caused by missense mutations in FBN-1 gene on q15, disrupting TGF-B-fibrillin complex and increasing amount of active TGF-B
potential causes
Abnl Fibrillin protein
epidemiology
risk factors
labimaging
Clinical exam tests? Walker Murdoch wrist sign, Steinberg thumb sign
conventional treatment
Currently testing use of angiotensin II type I receptor antagonist (Losartan)
