Marfan disease

In Marfan syndrome, a connective tissue disorder of autosomal dominant inheritance, the basic biochemical abnormality is a mutation affecting fibrillin. Mutations in the FBN1 gene are found in all patients with Marfan syndrome. Clinical features may include tall stature, long fingers, bilateral subluxation of lens, mitral valve prolapse, aoic aneurysm, and aoic dissection (Robbins Basic Pathology,9th edition,pg no. 221)