Literature DB >> 26258022

A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review.

Prashanth Shetty1, Deepthi Shetty2, P S Priyadarshana2, Smitha Bhat2.   

Abstract

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting the Amish population of Pennsylvania in USA with 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 are few case reports of this syndrome reported in dental literature. We report a case of a 17 year old female presenting typical features of this syndrome and the oral findings of this patient which are the key diagnostic features.

Entities:  

Keywords:  Chondroectodermal dysplasia; Ellis Van Creveld syndrome; Polydactyly

Year:  2015        PMID: 26258022      PMCID: PMC4523583          DOI: 10.1016/j.jobcr.2015.05.003

Source DB:  PubMed          Journal:  J Oral Biol Craniofac Res        ISSN: 2212-4268


  5 in total

Review 1.  Ellis-van Creveld syndrome. Case report and literature review.

Authors:  Daniela Alves-Pereira; Leonardo Berini-Aytés; Cosme Gay-Escoda
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2009-07-01

2.  Oral abnormalities in the Ellis-van Creveld syndrome: case report.

Authors:  D A Himelhoch; R Mostofi
Journal:  Pediatr Dent       Date:  1988-12       Impact factor: 1.874

3.  Oral manifestations in Ellis-van Creveld syndrome: report of five cases.

Authors:  Abel Cahuana; Camila Palma; Wilber Gonzáles; Esther Geán
Journal:  Pediatr Dent       Date:  2004 May-Jun       Impact factor: 1.874

4.  Ellis-van Creveld syndrome in an Indian child: a case report.

Authors:  K M Veena; H Jagadishchandra; Prasanna Kumar Rao; Laxmikanth Chatra
Journal:  Imaging Sci Dent       Date:  2011-12-19

Review 5.  Ellis-van Creveld syndrome.

Authors:  Geneviève Baujat; Martine Le Merrer
Journal:  Orphanet J Rare Dis       Date:  2007-06-04       Impact factor: 4.123

  5 in total
  2 in total

1.  First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld syndrome.

Authors:  I Piazza; P Ferrero
Journal:  Prog Pediatr Cardiol       Date:  2022-03-01

2.  Microdeletion of 4p16.2 in Children: A Case Report and Literature Review.

Authors:  Yanjie Qian; Xiaoying Wang; Wei Tang; Chaochun Zou
Journal:  Case Rep Genet       Date:  2022-04-09
  2 in total

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