Marfan syndrome and fibrillin disorders

Citation
Jm. Le Parc et al., Marfan syndrome and fibrillin disorders, JOINT BONE, 67(5), 2000, pp. 401-407
Citations number
25
Language
INGLESE
art.tipo
Review
Categorie Soggetti
Rheumatology
Journal title
JOINT BONE SPINE
ISSN journal
1297-319X → ACNP
Volume
67
Issue
5
Year of publication
2000
Pages
401 - 407
Database
ISI
SICI code
1297-319X(2000)67:5<401:MSAFD>2.0.ZU;2-0
Abstract
Marfan syndrome is the second most common inherited connective tissue disor der after osteogenesis imperfecta. Musculoskeletal abnormalities are at the forefront of the clinical picture and count among the major diagnostic cri teria for Marfan syndrome, together with cardiovascular and ocular system i nvolvement. Early diagnosis is of the utmost importance since preventive me asures significantly increase life expectancy and prevent the occurrence of impairments and disabilities. Marfan syndrome is due to mutations within t he fibrillin-1 gene, which is the main protein of the microfibril network. Microfibrils play a crucial role in the trophicity and function of elastic tissue. Multidisciplinary management of the patients and their families is vital. (C) 2000 Editions scientifiques et medicales Elsevier SAS.