MARFAN’S SYNDROME WITH UNUSUAL PRESENTATION
Journal Title: PARIPEX-Indian Journal of Research - Year 2015, Vol 4, Issue 1
Abstract
Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the gene encoding the extracellular matrix (ECM) protein fibrillin1 and TGFBR1 or 2. It is primarily associated with skeletal, cardiovascular and ocular pathology, displaying near-complete penetrance but variable expression. We hereby reporta case of an adolescent male with Marfans syndrome with progressive changes in cardiovascular system.
Authors and Affiliations
Shivaprakash N. C, Fathima Sabahath, Uday Shankar S
Keywords
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