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
Lab/Imaging
Clinical exam tests? Walker Murdoch wrist sign, Steinberg thumb sign
Conventional Treatment
Currently testing use of angiotensin II type I receptor antagonist (Losartan)