Autopsy Findings in a Case of Ellis Van Creveld Syndrome with Review of Literature  

作　　者：Asaranti Kar Dilleswari Pradhan Jagannath Pahi Mrunmayee Patra Pranati Mohanty Gayatri Rath Susmita Behera 

机构地区：[1]Department of Pathology, S.C.B. Medical College, Cuttack, India

出　　处：《International Journal of Clinical Medicine》2014年第14期851-854,共4页临床医学国际期刊（英文）

摘　　要：Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal autopsy was performed in a stillborn baby of 32 weeks of gestation having syndactyly, polydactyly and short forearms to know the cause of death and the diagnosis emerged as EVC syndrome. It is important to diagnose EVC syndrome as it is transmitted as an autosomal recessive disorder, so genetic counseling is required to make parents aware of the risk of recurrence.Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal autopsy was performed in a stillborn baby of 32 weeks of gestation having syndactyly, polydactyly and short forearms to know the cause of death and the diagnosis emerged as EVC syndrome. It is important to diagnose EVC syndrome as it is transmitted as an autosomal recessive disorder, so genetic counseling is required to make parents aware of the risk of recurrence.

关 键 词：ELLIS VAN Creveld SYNDROME PERINATAL AUTOPSY POLYDACTYLY 

分 类 号：R73[医药卫生—肿瘤]