PDF(Pubmed)
Abstract：
Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the EVC2 gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.
摘要：
Ellis-VanCreveld综合征（EVCS）是位于4号染色体上的EVC2基因的异常遗传状况。在这种情况下,这个人表现出骨骼生长异常，因此身材矮小，短臂和短腿（更常见的是前臂和小腿），胸部狭窄，肋骨短，多指,勺形或畸形的指甲，牙列异常，先天性心脏缺陷，如房间隔缺损和室间隔缺损。在这个案例报告中,我们介绍了一个4.5岁的女性儿童，她表现为咳嗽和紫癜的体征和呼吸急促，心动过速,面部水肿,冷,和俱乐部作为多指和身材矮小的症状集中在一种罕见的综合征，称为EVCS。
