CASE REPORT
Marfan syndrome – typical musculoskeletal abnormalities, rare occurrence in children
Submission date: 2014-10-22
Final revision date: 2014-11-11
Acceptance date: 2014-11-13
Online publication date: 2014-11-30
Publication date: 2014-12-31
Reumatologia 2014;52(6):402-405
KEYWORDS
TOPICS
ABSTRACT
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. It is caused by a mutation in the fibrillin-1 (FBN1) gene located on chromosome 15 as a result of activation of transforming growth factor . Since MFS affects most organs and tissues, patients with this disease constitute a clinically heterogeneous group. Specifically, MFS affects and causes disorders of the musculoskeletal system, eyes, heart and large blood vessels. A poor prognosis is expected due to the high risk of cardiovascular and ocular complications, which are caused by progressive dilatation of the aorta and ectopia lentis.
This article describes a case of MFS with typical musculoskeletal abnormalities.
This article describes a case of MFS with typical musculoskeletal abnormalities.
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Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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