An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue.  Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
    

Marfan Syndrome

Catalogue

The metacarpal index in Jamaican children and adults / by T.M. Walker and M.T. Ashcroft.

Patients doing it for themselves.

Saint Bartholomew's Hospital reports : volume LIII [1917 and 1918] / edited by F. W. Andrewes [and others].