Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature

Authors

  • Eva Gauchan Manipal College of Medical Sciences, Fulbari, Pokhara
  • Prakash Sharma Manipal College of Medical Sciences, Fulbari, Pokhara

DOI:

https://doi.org/10.3126/jnps.v36i2.15450

Keywords:

Ellis van-Creveld syndrome, ethnic groups, Nepal

Abstract

Ellis van-Creveld syndrome is a rare autosomal recessive disorder characterized by acromesomelic dwarfism, postaxial polydactyly, oro-dental abnormalities and congenital heart disease. We are reporting three cases in two families of the same ethnic group from Western Nepal. Genetic testing should be done in this population in order to identify the mutation in the gene causing the syndrome.

J Nepal Paediatr Soc 2016;36(2):188-192.

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Author Biographies

Eva Gauchan, Manipal College of Medical Sciences, Fulbari, Pokhara

Department of Pediatrics, Assistant Professor

Prakash Sharma, Manipal College of Medical Sciences, Fulbari, Pokhara

Assistant Professor, Department of Radiology and Imaging

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Published

2016-12-31

How to Cite

Gauchan, E., & Sharma, P. (2016). Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature. Journal of Nepal Paediatric Society, 36(2), 188–192. https://doi.org/10.3126/jnps.v36i2.15450

Issue

Section

Case Reports