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Marfan syndrome: A case report with review of literature
(2017) Castelino, Renita Lorina; Ka, Fazil; Babu, Subhas G; Balan, Preethi; Bhat, Supriya
Marfan syndrome is a systemic condition involving the connective tissue. The syndrome is inherited by autosomal dominant trait. Affected persons carry a mutation in the gene that encodes fibrillin-1 which is a connective tissue protein. The incidence of this syndrome is one in ten thousand live births with an equal predilection for both the genders. The syndrome is a collection of generalized manifestations involving the skeleton, eyes, heart, lungs, and the large blood vessels. The individual affected by this syndrome is usually tall and lean with various systemic abnormalities. A case of Marfan syndrome is reported here with review of literature.