PDF(Pubmed)
Abstract：
Ellis-Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period.
摘要：
埃利斯-范·克里维尔德综合征（EVC），也被称为中外胚层发育不良，是一种罕见的常染色体隐性遗传疾病，具有临床特征，包括侏儒症，多指,外胚层发育不良，头发稀疏，发育不良的指甲和搪瓷，牙体发育不全和圆锥牙与先天性心脏病（CHD）。我们报道了一个身材矮小、多指的18岁女孩，在过去的两年里，他因劳累而呼吸急促入院。在超声心动图上，诊断为部分房室管（AV管）缺损，手术修复的。患者围手术期顺利。
