Marfan syndrome – typical musculoskeletal abnormalities, rare occurrence in children

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.

Keywords

• Marfan syndrome
• connective tissue disorders
• mutation of fibrillin-1 gene
• diagnosis