马凡(Marfari)综合征也有先天性中胚层发育不良、Marchesani综合征、蜘蛛指征、肢体细长症之称其特征是周围结缔组织营养不良、骨骼异常、内眼疾病和心血管异常是一种以结缔组织为基本缺陷的遗传性疾病最早是由Marfan(1896)报道1例5岁女孩,生有特殊纤细且长的四肢。至1902年,Achard将这种体征称为蜘蛛指。Salle(1921)曾解剖1例患有本综合征的婴儿,发现有卵圆孔未闭。至1931年,Weve确认本综合征为显性遗传性疾病并认为系中胚层组织发育异常所致。
他将会有天患有心血管疾病,他有罕见的遗传性疾病马凡氏综合症。
He had cardiovascular disease, some say. Or he had the rare genetic disorder Marfan's Syndrome.
马凡氏综合症要尽早发现,这至关重要,因为该病通常与主动脉的血管壁薄弱有关。
It's vital that Marfan's be diagnosed as soon as possible, as the condition is commonly associated with weakness of the wall of the aorta.
马凡氏综合症是基因型结缔组织病。
Marfan's Syndrome is a genetic disorder that affects the connective tissue in the body.
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