Marfan syndrome a rare genetic disorder: - A case report

Corresponding authorDr. Kavita Paul,Department of Medicine,GGS Medical College and Hospital,Faridkot, 151203, Punjab, India.Email: [email protected] This article may be cited as:Paul K,Kazal HL,Bairwa NK,Verma s. Marfan syndrome a rare genetic disorder: A case report 2016;2(1):33-6 Article Recieved On: 10-2-16 Accepted On: 19-3-2016 NTRODUCTION Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. 1-3 The defect itself has been isolated to the FBN1 gene on chromosome 15,which codes for the connective tissue protein fibrillin. 1,4 Abnormalities in this protein cause a myriad of distinct clinical problems ,of which the musculoskeletal, cardiac and ocular system problems predominate. 2,5,6 The skeleton of patients with MFS typically displays multiple deformities including arachnodactyly (i.e. abnormally long and thin digits), dolichostenomelia (i.e. long limbs relative to trunk length), pectus deformities (i.e. pectus excavatum and pectus carinatum) and throracolumbar scoliosis. 7 In the cardiovascular system aortic dilatation, aortic regurgitation and aneurysms are the most worrisome clinical findings. 1,3 Mitral valve prolapse that requires valve replacement can occur as well. Ocular findings include myopia, cataracts, retinal detachment and superior dislocation of the lens. Here, we present a case report of this rare genetic disorder.