Goldstein S, Qazi Q H, Fitzgerald J, Goldstein J, Friedman A P, Sawyer P
Am J Med Genet. 1985 Feb;20(2):283-94. doi: 10.1002/ajmg.1320200212.
We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post-phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.
我们报告了一种此前显然未被报道过的综合征，该综合征表现为双眼双行睫合并先天性心脏缺陷以及母亲和她的四个孩子存在混合性外周血管异常。母亲患有室间隔缺损；两个女儿均接受了动脉导管未闭手术。心电图记录显示，大儿子仅有窦性心动过缓，小儿子有应激诱发的心脏停搏，两个女儿有游走性房性心律。五人中三人有水肿，两人有可见的静脉曲张，三人有与腿部慢性静脉疾病相符的症状，大女儿有与腿部动脉疾病相符的主诉。多普勒血流研究表明，除小女儿外，其他人均患有血栓后综合征，母亲、大女儿和二儿子患有血管痉挛性疾病。
