Section Editor: Sandy Cheng-Yu Chen, M.D.
Taipei Medical University Hospital, Taipei, Taiwan
Figure Caption
Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue due to faulty elastin by a mutation in FBN1 gene on chromosome 15. It is characterized by multiple ocular (ectopia lentis), muskuloskeletal (wrist sign), dural (ectasia), and cardiorespiratory (aortic root dissecting) manifestations. Diagnosis is based on revised clinical criteria (Ghent nosology). Dural ectasia is a major criteria and is diagnosed by presence of anterior sacral meningocele or increased dural sac diameter at level S1 or below, as compared to the diameter at L4 level (A). Posterior vertebral scalloping (arrows in B) is common, but this finding can be seen in other diseases, such as neurofibromatosis type 1.