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Category: Volume 08 Issue 01 January 2020
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Title: A Rare Case of Ellis Van Creveld Syndrome

Authors: Dr G. Ratna Madhuri, Dr M. Jagadeesh, Dr P.V.V. Satyanarayana

 DOI: https://dx.doi.org/10.18535/jmscr/v8i1.170

Abstract

Ellis-Van Creveld syndrome is an autosomal recessive disorder of skeletal dysplasia. It is also known as chondroectodermal dysplasia or mesoectodermal dysplasia. Six fingered dwarfism was an alternative designation used for this condition. It is characterized by chondroectodermal dysplasia, polydactyly, congenital heart defects and hypoplastic nails and teeth. Mutations of EVCl and EVC2 genes located in head to head configuration on chromosome 4p16 have been identified as causative along with parental consanguinity.

References

  1. Souza R.C., Martins R.B., Okida Y., Giovani E.M. Ellis-Van Creveld syndrome: oral manifestations and treatment. J Health Sci Inst. 2010;28:241–243. 
  2. Veena K.M., Jagadishchandra H., Rao P.K., Chatra L. Ellis-Van Creveld syndrome in an Indian child: a case report. Imaging Sci Dent. 2011;41:167–170. 
  3. Alves-Pereira D., Berini-Aytés L., Gay-Escoda C. Ellis-Van Creveld syndrome. Case report and literature review. Med Oral Patol Oral Cir Bucal. 2009;14:E340–E343.
  4. Hegde K., Puthran R.M., Nair G., Nair P.P. Ellis-Van Creveld syndrome–a report of two siblings.Br Med J Case Reports. 2011:1–8.
  5. Cahuana A., Palma C., Gonzáles W., Geán E. Oral manifestations in Ellis-van creveld syndrome. Rep Five Cases Pediatr Dent. 2004;26:277–282.
  6. Cavan B.C., Amatong R.A., Serafica E.M., Cavan-Jumamoy B.C., Jiao L.L., III Ellis-van creveld syndrome in two Filipino siblings. Acta Medica Philipp. 2009;43:57–59.
  7. Baujat G., Merrer M.L. Review- Ellis-Van creveld syndrome.Orphanet J Rare Dis. 2007;2:1–5.
  8. Gopal G., Belavadi G.B. Case report of a child with Ellis-Van creveld syndrome. Int J Pharm Biomed Res. 2014;5:14–17.
  9. Cesur Y., Yuca S.A., Üner A., Yuca K., Arslan D. Ellis-Van Creveld syndrome. Eur J Gen Med. 2008;5:187–190.
  10. Himelhoch D.A., Mostofi R. Oral abnormalities in the Ellis-van Creveld syndrome: case report. Pediatr Dent. 1988; 10:309–313.

Corresponding Author

Dr G. Ratna Madhuri

Department of General Medicine, Rangaraya Medical College, India