User Settings
Article

Marfan Syndrome in Semarang: report of two cases

Nani Maharani,AN Setyawati,Sodiqur Rifqi,MA Sungkar,Acik Yuli Purwanti,Sultana MH Faradz+1 more-2009-11-28
0

TL;DRAbstract

Marfan Syndrome is a heritable connective tissue disorders, mostly caused by mutations in fibrillin-1 gene. In major cases, this syndrome is inherit in autosomal dominant manner, with~25% cases are caused by de novo mutations. Affected persons showed varying patterns of organ involvement including the ocular, skeletal, cardiovascular, pulmonary, dura and skin, in which aortic dissection become the most common cause of mortality. High variability in phenotypic expressions between and within families were also observed in this syndrome. Two cases of Marfan Syndrome in whom mutation analysis in FBN1 gene have been performed, showed two novel mutations. The first case was a 7-years old boy with a de novo missense mutation in exon 28 of FBN1 gene, c.3545G>A [p.C1182T]. The patient presented with lens dislocation, aortic dilatation, mitral valve prolapsed, pectus carinatum and dolichostenomelia. The second case was a familial Marfan Syndrome. The proband was a 32-years old man with a nonse

Chat with Paper

AI Agents for this Paper

Marfan Syndrome is a heritable connective tissue disorders, mostly caused by mutations in fibrillin-1 gene. In major cases, this syndrome is inherit in autosomal dominant manner, with~25% cases are caused by de novo mutations. Affected persons showed varying patterns of organ involvement including the ocular, skeletal, cardiovascular, pulmonary, dura and skin, in which aortic dissection become the most common cause of mortality. High variability in phenotypic expressions between and within families were also observed in this syndrome. Two cases of Marfan Syndrome in whom mutation analysis in FBN1 gene have been performed, showed two novel mutations. The first case was a 7-years old boy with a de novo missense mutation in exon 28 of FBN1 gene, c.3545G>A [p.C1182T]. The patient presented with lens dislocation, aortic dilatation, mitral valve prolapsed, pectus carinatum and dolichostenomelia. The second case was a familial Marfan Syndrome. The proband was a 32-years old man with a nonse

Keywords

Marfan syndromePectus carinatumMedicineProbandMissense mutationArachnodactylyEctopia lentisNonsense mutation

Chat

Click to start Chat