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CASE REPORT
Year : 2021  |  Volume : 9  |  Issue : 3  |  Page : 180-182

Ellis–van creveld syndrome: A rare autosomal recessive genetic disorder


Department of General Medicine, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India

Correspondence Address:
Dr. Suraj S Hegde
Post Graduate, Department of General Medicine, Victoria Hospital, Bangalore Medical College and Research Institute, K. R Market, Bengaluru - 560 002, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJIM.AJIM_91_19

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Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects, and hypoplastic nails and teeth. There have been few case reports of this syndrome published mainly in dental literature. We report a case of a 40-year-old male presenting with typical features of this syndrome.


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