Late presentation of Ellis van Creveld Syndrome with Common atrium anomaly: A case report in a Nepalese Adult

  • Anish Hirachan Department of Cardiology, NAMS, Kathmandu
  • KC Bishal Department of Cardiology, NAMS, Kathmandu
  • Arun Maskey Department of Cardiology, Sahid Gangalal National Heart Centre, Kathmandu
  • Madhu Roka Department of Cardiology, Sahid Gangalal National Heart Centre, Kathmandu
  • Gopi Prasad Hirachan Department of Cardiology, Gandaki Medical College, Pokhara
Keywords: Ellis van Creveld syndrome, narrow thorax, chondrodystrophy

Abstract

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance characterized by chondrodystrophy, polydactyly, ectodermal dysplasia, and various cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, deformed teeth, short ribs and narrow thorax and other systemic anomalies complete the picture of this syndrome. The patients with the syndrome rarely survive into adulthood. Here, we report a 30 year old male with EVC presenting for the first time in middle age with Common atrium anomaly.

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Abstract
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PDF
169
Published
2018-04-05
How to Cite
Hirachan, A., Bishal, K., Maskey, A., Roka, M., & Hirachan, G. (2018). Late presentation of Ellis van Creveld Syndrome with Common atrium anomaly: A case report in a Nepalese Adult. Journal of Advances in Internal Medicine, 7(1), 26-29. https://doi.org/10.3126/jaim.v7i1.19580
Section
Case Reports