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马凡氏综合征是较为罕见的常染色体显性遗传病。现将我们发现的一家系两代5人患此病的调查结果,报告如下: 例1:韩某,男,33岁,因视物不清就诊,检查:视力,双眼0.09,近视力0.2,验光不能矫正;扩瞳检查见双眼晶体向鼻上方移位,晶体悬韧带较紧张,虹膜震颤,瞳孔不正圆,上缘扁平;眼底星高度近视改变。瘦长体型,扁平胸,皮下脂肪少,身高1.85米,体重59公斤,四肢细长,坐高1.51米,两上肢展开长度1.94米,手指细长。心肺听诊未闻异常。心电图提示左室面高电压(Rv_5=32mm),其余导联未有异常。全胸片:主动脉及右室均未见异常。例2:韩某,为先证者之兄,38岁,眼部及体型
Marfan syndrome is a relatively rare autosomal dominant genetic disease. Now we found a family of two generations of five people suffering from the disease, the findings are reported as follows: Example 1: Han, male, 33 years old, due to blurred vision, check: visual acuity, eyes 0.09, near vision 0.2, Optometry can not be corrected; dilated pupil check to see the eyes of the crystal shift to the top of the nose, crystal tension more tensioned zona, iris tremor, pupil circle is not round, flat on the edge; fundus height myopia change. Slender body, flat chest, less subcutaneous fat, height 1.85 meters, weight 59 kg, slender limbs, sitting 1.51 meters high, the two upper extremities 1.94 meters in length, fingers slender. Cardiopulmonary auscultation did not smell abnormalities. Electrocardiogram prompted left ventricular high voltage (Rv_5 = 32mm), the remaining lead is not abnormal. Full chest radiograph: no abnormalities in aorta and right ventricle. Example 2: Han, the brother of proband, 38 years old, eyes and body