Marfan syndrome. Report of a patient

Abstract

Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or sex predominance. A patient with sporadic Marfan syndrome was diagnosed after being benefited with a renal transplantation. Review of the clinical manifestations syndrome of Marfan is done and criteria for diagnosis.

Keywords

• síndrome de marfan
• enfermedades genéticas congénitas