PDF(Pubmed)
Abstract：
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder associated with the mutation of the FBN1 gene. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders with similar clinical features to MFS that often requires genetic testing to confirm a diagnosis of an EDS subtype. MFS is diagnosed using the Ghent Nosology criteria, which screens for cardiovascular, musculoskeletal, integumentary, ocular, and pulmonary abnormalities. Though genetic testing has recently been increasingly emphasized in diagnosing MFS, it is not currently a mandatory component of the Ghent Nosology. We present the case of a nine-year-old male who presented with joint hypermobility of the shoulders, knees, and thumbs, and a family history of joint hypermobility in his 15-year-old brother. Genetic testing ruled out MFS, and the patient subsequently underwent testing for EDS, which further ruled out classical and hypermobile EDS. This case highlights the importance of supplementing the Ghent Nosology criteria with genetic testing in diagnosing MFS because it can aid in generating a differential diagnosis and optimizing diagnostic accuracy.
摘要：
马凡氏综合征（MFS）是与FBN1基因突变相关的常染色体显性结缔组织疾病。Ehlers-Danlos综合征（EDS）是一组遗传性结缔组织疾病，具有与MFS相似的临床特征，通常需要进行基因检测以确认EDS亚型的诊断。MFS使用根特Nosology标准诊断，哪些筛查心血管疾病，肌肉骨骼，外皮,眼,和肺部异常。尽管最近在诊断MFS中越来越强调基因检测，它目前不是根特新闻学的强制性组成部分。我们介绍了一个9岁男性的情况，他表现出肩膀的关节过度活动，膝盖,和拇指，他15岁的弟弟有关节过度活动的家族史.基因检测排除了MFS,患者随后接受了EDS测试，这进一步排除了经典和超移动EDS。这个案例强调了在诊断MFS中补充根特诺索洛标准与基因检测的重要性，因为它可以帮助产生鉴别诊断和优化诊断准确性。
