马凡氏综合征(Marfan’s syndrome)是由法国小儿科医师马凡氏于1896年首次报道。本综合征是一种结缔组织代谢性异常,一般认为是常染色体显性遗传性疾病,临床以骨骼异常,眼病症及心血管病变为特征。国内外已屡见不鲜,但对本病的家系谱调查,皮纹分析,超声心动图的表现报道尚不多。现将本院眼科一女病人王氏的家系进行了调查,见图七系谱图报道如下。本家族无血亲关系。临床资料 Marfan’s syndrome was first reported by French pediatrician Marfan in 1896. The syndrome is a connective tissue metabolic abnormalities, is generally believed to be autosomal dominant genetic disease, clinical skeletal abnormalities, eye disorders and cardiovascular disease is characterized. It is not uncommon at home and abroad, but the genealogy survey, dermatoglyphics and echocardiography have not been reported yet. Now a family hospital ophthalmology Wang’s family conducted a survey, see Figure VII pedigree report as follows. This family has no blood relationship. clinical information