论文部分内容阅读
马凡氏综合征(Marfans Syndrome)是一种常染色体显性遗传的结缔组织病。本文报告一家系5代47人中15人患此症。先证者男性,57岁。活动后心悸、气急1年余,近半年来,劳累后阵发性心前区疼痛,22岁时曾诊为晶状体脱位,行晶状体摘除术。体检:血压160/60mmHg,细长体型,身高180cm。皮下脂肪少。颅呈长方型,眉弓突出,巩膜有手术疤痕,瞳孔不等圆,眼底无异常。腭弓高窄,齿列不齐。鸡胸,心界向左下扩大,主动脉听诊区可闻舒张期杂音,可见毛
Marfans Syndrome is an autosomal dominant connective tissue disease. This article reports a family of 5 generations 47 people in 15 people suffering from this disease. Proof of the male, 57 years old. After the event palpitations, shortness of breath more than 1 year, nearly six months, fatigue after paroxysmal paroxysmal pain, 22 years old had been diagnosed with dislocation of the lens, lens extraction surgery. Physical examination: blood pressure 160 / 60mmHg, slender body, height 180cm. Subcutaneous fat less. Rectangular skull, prominent eyebrows, sclera surgery scar, pupil ranged round, fundus without exception. High palatal arch, dentition missing. Chicken breast, heart to the left to expand the aortic auscultatory area can be heard diastolic murmur, visible hair