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Objective To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin-1 (FBN1) gene.Methods Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and the other of neonatal onset. Their clinical features were described. Mutational analysis of the FBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23 - 32,where the mutational hotspots for severe forms of Marfan syndrome are located.Results Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported mutation.Conclusion Taking advantage of the clustering phenomenon of mutations in severe forms of Marfan syndrome, one can identify FBN1 mutations in these patients by first screening the mutational hotspots,thus reducing the effort that would otherwise be much greater because of the size of the gene.
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马凡综合征眼晶状体超微结构观察
马凡综合征是一种广泛的结缔组织代谢性疾病,受累的组织包括眼、骨骼和心血管系统.晶状体超微结构近年来有不少报道[1-3],马凡综合征透明晶状体超微结构的改变国内报道甚少.作者从马凡综合征晶状体脱位患者眼内捞出晶状体后,用硝酸镧作示踪剂观察其超微结构的变化,现报告如下.
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马凡综合征心血管病变的影像诊断
本研究收集手术或/和临床证实的马凡综合征(Marfan syndrome)心血管病患者9例,回顾分析超声心动图、X线平片、心血管造影、CT及MR表现,比较不同检查方法的诊断价值.