International Journal of Clinical Medicine

Volume 5, Issue 14 (July 2014)

ISSN Print: 2158-284X   ISSN Online: 2158-2882

Google-based Impact Factor: 0.69  Citations  h5-index & Ranking

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

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DOI: 10.4236/ijcm.2014.514114    2,847 Downloads   3,729 Views  Citations

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.

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Kar, A. , Pradhan, D. , Pahi, J. , Patra, M. , Mohanty, P. , Rath, G. and Behera, S. (2014) Autopsy Findings in a Case of Ellis Van Creveld Syndrome with Review of Literature. International Journal of Clinical Medicine, 5, 851-854. doi: 10.4236/ijcm.2014.514114.

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