Tompson, S.W., Ruiz-Perez, V.L., Blair, H.J., Barton, S., Navarro, V., Robson, J.L., et al. (2007) Sequencing EVC and EVC2 Identifies Mutations in Two-Thirds of Ellis-Van Creveld Syndrome Patients. Human Genetics, 120, 663-670.
http://dx.doi.org/10.1007/s00439-006-0237-7

has been cited by the following article:

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

  AUTHORS: Asaranti Kar, Dilleswari Pradhan, Jagannath Pahi, Mrunmayee Patra, Pranati Mohanty, Gayatri Rath, Susmita Behera

  KEYWORDS: Ellis Van Creveld Syndrome, Perinatal Autopsy, Polydactyly

  JOURNAL NAME: International Journal of Clinical Medicine, Vol.5 No.14, July 23, 2014

  ABSTRACT: 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.