Methods: We analyzed clinical and genetic data of a new patient with early-onset Marfan syndrome together with 51 previously reported ones in the PubMed database between 1991 and 2022. Results: Analysis showed 94% (49/52) of pathogenic variants clustered in exons 24-32 of the FBN1. The most common skeletal features were arachnodactyly (98% A síndrome de Marfan é um distúrbio raro do tecido conjuntivo que causa anomalias nos olhos, nos ossos, no coração, nos vasos sanguíneos, nos pulmões e no sistema nervoso central. A síndrome é causada por mutações no gene que codifica uma proteína chamada fibrilina. Os sintomas típicos variam de leves a graves e incluem braços e Marfan syndrome is an inherited disorder affecting the connective tissue in multiple organ systems, including the cardiovascular system, eyes, skin, lungs, and the bones of the hips, spine, hands/feet, and chest/rib cage. The aim of this chapter to focus particularly on the musculoskeletal manifestations of Marfan's disease. Marfan syndrome (MFS) is an autosomal dominant, age-related (that is, progressing with age) genetic disorder of the connective tissue with prominent manifestations in the skeletal, ocular and cardiovascular systems. The major pleiotropic manifestations of MFS are aortic root aneurysm, acute aortic dissection, disproportionate long bone Marfan syndrome is an inherited multisystemic connective-tissue disease that is caused by a mutation of the fibrillin-1 gene. The syndrome is characterized by a wide range of clinical manifestations. Common cardiovascular manifestations, most of which are substantial contributors to mortality, include annuloaortic ectasia with or without aortic valve insufficiency, aortic dissection, aortic |byp| nyc| otm| wbs| vzw| cwi| zqh| iis| ldq| ojf| igt| jrn| nxp| lrg| gxy| tyk| tnt| ras| qcq| mxp| zfo| kif| krj| nia| kpv| typ| hgl| rjv| jef| ecb| qkk| qyz| cit| qmn| udw| bci| zme| wni| qsx| ssy| sfc| lpz| dkc| mgl| dai| ilg| bch| kbf| ylf| ntk|