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早在1896年Marfan就叙述了体型狭长身高超过正常人的Marfan综合征。本文是第一例身材矮小的报告。患者女性19岁,视力进行性下降,检查有一些畸形综合征:向正前方及右后侧双驼的鸡胸畸形;明显的脊柱后侧突;舟状头畸形等。最明显的是身矮1.29米,而两手侧伸距离则长1.41米。双手瘦长,手指细长,状似蜘蛛指,二臂细长可及膝,同时还有拇指和腕部的韧带过度松弛,以及双脚中间凹陷,跟骨后突等畸形。腭拱高。眼部发现:右眼全前房出血,无光感。出血吸收后发现晶体混浊并向前脱位。左眼晶体向内上脱位,瞳孔光反应几乎消失,但不大。眼底不能窥见。视力为眼前指数。
As early as 1896, Marfan recounted the Marfan syndrome, which is slender and taller than normal people. This is the first report of a short stature. Female 19-year-old patient, visual acuity decreased, check for some deformity syndrome: to the front and right rear double camel chicken breast deformity; obvious posterior scoliosis; scaphic deformity and so on. The most obvious is the body short 1.29 meters, while the hands side stretch is 1.41 meters long. His hands are long and slender, with fingers like spiders. His arms are slender and knees. There are also excessive loosening of the ligaments of the thumbs and wrists, as well as deformities in the middle of the feet and posterior calcaneus. Palate arch height. Ocular findings: right anterior chamber bleeding, no light feeling. After absorption of the bleeding, the crystal was found to be cloudy and dislocated forward. Left lens inward dislocation, pupil light reaction almost disappeared, but not large. Fundus can not glimpse. Vision for the immediate index.