Literature DB >> 28969186

Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report.

Mugula Sudhakar Rao1, Devavrata Sahu2, Hashir Kareem3, Tom Devasia4, Kishor Kumar Shetty5.   

Abstract

Ellis-van Creveld syndrome is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. Patients with this syndrome rarely survive into adulthood. The syndrome has also been rarely reported in the Indian population. We present the case of a 56 year old female who presented with post-menopausal bleeding, and was diagnosed with Ellis van Creveld syndrome, with a common atrium and common atrioventricular valve.

Entities:  

Keywords:  Genetic disorder; Polydactyly; Post-menopausal bleeding

Year:  2017        PMID: 28969186      PMCID: PMC5620827          DOI: 10.7860/JCDR/2017/25126.10454

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  6 in total

1.  Single atrium and the Ellis-van Creveld syndrome.

Authors:  F L GIKNIS
Journal:  J Pediatr       Date:  1963-04       Impact factor: 4.406

2.  Ellis van Creveld syndrome--a report of two siblings.

Authors:  Karthik Hegde; Reema Manoj Puthran; Gopakumar Nair; Preeti P Nair
Journal:  BMJ Case Rep       Date:  2011-10-11

3.  Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.

Authors:  E O da Silva; D Janovitz; S C de Albuquerque
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

4.  Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

Authors:  Christine B Hills; Lazaros Kochilas; Lisa A Schimmenti; James H Moller
Journal:  Pediatr Cardiol       Date:  2011-05-01       Impact factor: 1.655

5.  Late survival in Ellis-van Creveld syndrome - a case report.

Authors:  Trinath Mishra; Satya N Routray; Biswajit Das
Journal:  Indian Heart J       Date:  2012-06-26

Review 6.  Ellis-van Creveld syndrome.

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

  6 in total
  1 in total

1.  Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Authors:  Xiangjun Huang; Yi Guo; Hongbo Xu; Zhijian Yang; Xiong Deng; Hao Deng; Lamei Yuan
Journal:  Mol Genet Genomic Med       Date:  2019-07-23       Impact factor: 2.183

  1 in total

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