Late presentation of Ellis van Creveld Syndrome with Common atrium anomaly: A case report in a Nepalese Adult
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.
Copyright (c) 2018 Anish Hirachan, KC Bishal, Arun Maskey, Madhu Roka, Gopi Prasad Hirachan
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a
Creative Commons Attribution 4.0 International License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).