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

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