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Marfan Syndrome with Atypical Presentation: A Case Report
2014
BIRDEM Medical Journal
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
doi:10.3329/birdem.v4i2.33233
fatcat:6lfuqews45cxzhmzxcpw63pfeq