AB081. Variable major phenotypes in familial Marfan syndrome in Indonesia: a case report

摘要

BackgroundMutations in FBN1 gene can cause Marfan syndrome (MFS), in which 25% of cases are familial type. Affected persons show varying patterns of organ system involvements including ocular, skeletal, cardiovascular, pulmonary, dural and cutaneous manifestation. Although genotype-phenotype correlations have been described in some cases. The majority of MFS patients still expressed a wide phenotypic variability, even within family with the same mutation.