Publication: Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature
Date
2016
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 188 - 192
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Identifier
https://doi.org/10.3126/jnps.v36i2.15450