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1 临床资料 先证者(Ⅲ_7)女,28岁,因“胸闷、胸部烧灼样疼痛三个月”就诊。三个月前无诱因感觉咽喉下方、胸部烧灼样难受、疼痛,并左肩部疼痛、闷气、食欲差、无力,未在意。近七天加重,胸闷、长叹气、胸部撕裂样难受就诊。查体:P70次/分,血压110/70mmHg,身高175cm,肢体细长,面孔窄,高度近视,双眼裂小,脊柱略后凸,蜘蛛指(趾)。X线胸片、彩超未显示主动脉改变。心电图:窦性心律。临床诊断:马凡氏综合征。
1 clinical data proband (Ⅲ_7) female, 28 years old, because of “chest tightness, chest pain burning three months” treatment. Three months ago, no incentive to feel the throat below the chest burning like uncomfortable, pain, and left shoulder pain, sulking, poor appetite, weakness, did not care. Nearly seven days increased, chest tightness, long sighs, chest tear-like uncomfortable treatment. Physical examination: P70 beats / min, blood pressure 110 / 70mmHg, height 175cm, limbs slender, narrow face, high myopia, small eyes, spine slightly kyphosis, spider fingers (toes). X-ray, color Doppler ultrasound did not show aortic changes. Electrocardiogram: sinus rhythm. Clinical diagnosis: Marfan syndrome.