PDF(Pubmed)
Abstract：
Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by manifestations in the musculoskeletal system (joint laxity, scoliosis), the cardiovascular system (aortic dilation), and the ocular system (ectopic lens). We report a case of a 37-year-old male with a genetically confirmed MFS. His mother and brother were also both confirmed cases of MFS. While the patient exhibited the characteristic physical features of MFS in general appearance, he did not show any cardiac manifestations of the disease. This report highlights a case of the familial occurrence of MFS and emphasizes the importance of recognizing the forme fruste of MFS.
摘要：
马凡氏综合征（MFS），遗传性结缔组织疾病,是由FBN1基因突变引起的.MFS的特征在于肌肉骨骼系统的表现(关节松弛，脊柱侧凸)，心血管系统（主动脉扩张），和眼系统（异位晶状体）。我们报告了一例37岁男性，其遗传证实为MFS。他的母亲和兄弟也都是MFS的确诊病例。虽然患者在总体外观上表现出MFS的特征性身体特征，他没有表现出这种疾病的任何心脏表现。本报告重点介绍了MFS家族性发生的案例，并强调了认识到MFS形式结果的重要性。
