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.