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马凡氏综合征(Marfan’s Syndrome)是一种常染色体显性遗传的结缔组织病。临床特点为眼、骨骼和心血管系统异常。本文报告一家系33人2例典型马凡氏综合征。先证者,女,35岁,住院号880422。平素能胜任体力劳动而无任何症状。1987年12月28日因劳累后胸痛,持续而剧烈,出汗,恶心呕吐,心慌、气喘。第二天全身浮肿。当时诊为“风心、心衰”给以强心、利尿剂治疗,有好转,半月后症状加重,B超报告为
Marfan’s Syndrome is an autosomal dominant connective tissue disease. Clinical features of the eye, skeletal and cardiovascular system abnormalities. This article reports a family of 33 patients with 2 cases of typical Marfan syndrome. The proband, female, 35 years old, hospital number 880422. Usually capable of manual labor without any symptoms. December 28, 1987 due to fatigue after chest pain, sustained and intense, sweating, nausea and vomiting, palpitation, asthma. The next day the whole body edema. At that time diagnosed as “wind heart, heart failure,” to cardiac, diuretic treatment, improved, half a month later symptoms worsened, B-