https://doi.org/10.4081/reumatismo.2005.125

Osteoporosis in adult with Marfan syndrome: casuality or causality?

Vol. 57 No. 2 (2005)
Abstract Views: 1740
PDF: 1765
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Authors

M. D'Amore
office@pagepress.org
G. Minenna
P. Scagliusi
S. D’Amore
Nearly 100 years ago, Antoine Marfan first described a recurrent systemic disorder of connective tissue characterized by overgrowth of the long bones (1). It took an additional 50 years before ocular and cardiovascular manifestations were associated with this disorder, now termed Marfan syndrome (MFS). MFS is an inherited connective tissue disorder transmitted as an autosomal dominant trait. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic, or ethnic predilection (2). The disorder results from mutations in the fibrillin-1 (FBN1) gene located on chromosome 15q21.1(3). Approximately 15% of cases occur in the absence of a family history, representing new mutations; infact to date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases. However, about a half of MFS cases do not possess mutations in the FBN1 gene...

Dimensions

Altmetric

PlumX Metrics

Downloads

Download data is not yet available.

Citations

Crossref
Scopus
Google Scholar
Europe PMC

How to Cite

D’Amore, M., Minenna, G., Scagliusi, P., & D’Amore, S. (2005). Osteoporosis in adult with Marfan syndrome: casuality or causality?. Reumatismo, 57(2), 125–127. https://doi.org/10.4081/reumatismo.2005.125

Authors who publish with this journal agree to the following terms:

  1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
  2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.