Open AccessMarfan Syndrome with Atypical Presentation: A Case Report
Author(s) -
Sharmin Mahbuba,
Fauzia Mohsin,
Rubaiya Islam,
Tahmina Begum
Publication year - 2014
Publication title -
birdem medical journal
Language(s) - English
Resource type - Journals
eISSN - 2305-3720
pISSN - 2305-3712
DOI - 10.3329/birdem.v4i2.33233
Subject(s) - marfan syndrome , presentation (obstetrics) , medicine , connective tissue disorder , connective tissue , case presentation , pediatrics , dermatology , surgery , pathology
Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114