Open AccessEllis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature
Author(s) -
Eva Gauchan,
Prakash Sharma
Publication year - 2016
Publication title -
journal of nepal paediatric society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.13
H-Index - 8
eISSN - 1990-7982
pISSN - 1990-7974
DOI - 10.3126/jnps.v36i2.15450
Subject(s) - polydactyly , medicine , ethnic group , pediatrics , dwarfism , population , disease , genetics , pathology , anatomy , gene , environmental health , sociology , biology , anthropology
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.