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Turner综合征是一种较少见的遗传性疾病,约有20%的患者合并心血管畸形,但合并松弛性瓣膜综合征甚为少见。现将我们所见1例报告如下。患者,女,16岁。因双侧膝踝关节疼痛及心前区闷痛、气短6个月住某县医院。经治疗,关节疼痛明显好转,但心前区闷痛及气短无改善。检查发现心脏杂音,拟诊为“风湿性二尖瓣关闭不全”。转入本院治疗。患者自幼发育差,至今月经未初潮。家族中无身材明显矮小者。体检:身高125cm,体重25kg。
Turner syndrome is a rare genetic disease, about 20% of patients with cardiovascular malformations, but the merger of the flaccid valve syndrome is rare. Now we see a report as follows. Patient, female, 16 years old. Due to bilateral knee ankle pain and precocious pain, shortness of breath 6 months to live in a county hospital. After treatment, joint pain was significantly improved, but the boring pain and shortness of breath before no improvement. Check the heart murmur, diagnosed as “rheumatic mitral regurgitation.” Transferred to our hospital for treatment. Patients with poor development since childhood, so that menstruation has not menarche. There are no obvious short stature in the family. Physical examination: height 125cm, weight 25kg.