Literature DB >> 26106249

Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

Joaquín Pérez-Andreu1, Victor Glenn Ray1, José María Arribas1, Sergio Juan Sánchez1.   

Abstract

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

Entities:  

Keywords:  Ellis-van Creveld syndrome; adulthood; mitral regurgitation

Mesh：

Year:  2015        PMID： 26106249      PMCID： PMC4469864          DOI： 10.11622/smedj.2015097

Source DB:  PubMed          Journal:  Singapore Med J        ISSN： 0037-5675            Impact factor:   1.858


  10 in total

1.  Ellis-van Creveld syndrome associated with thymic hypoplasia.

Authors:  Haci Akar; Cüneyt Konuralp; Kemal Baysal; Ferşat Kolbakir
Journal:  Asian Cardiovasc Thorac Ann       Date:  2002-12

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

Authors:  Matthew J O'Connor; R Thomas Collins
Journal:  Pediatr Cardiol       Date:  2012-04       Impact factor: 1.655

3.  A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.

Authors:  R W Ellis; S van Creveld
Journal:  Arch Dis Child       Date:  1940       Impact factor: 3.791

4.  Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

Authors:  S Rudnik-Schöneborn; K Zerres; L Graul-Neumann; S Wiegand; H Mellerowicz; U Hehr
Journal:  Mol Syndromol       Date:  2011-09-14

5.  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

6.  Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Authors:  Victor L Ruiz-Perez; Stuart W J Tompson; Helen J Blair; Cecilia Espinoza-Valdez; Pablo Lapunzina; Elias O Silva; Ben Hamel; John L Gibbs; Ian D Young; Michael J Wright; Judith A Goodship
Journal:  Am J Hum Genet       Date:  2003-02-04       Impact factor: 11.025

Review 7.  Genetic syndromes and congenital heart defects: how is surgical management affected?

Authors:  Roberto Formigari; Guido Michielon; Maria Cristina Digilio; Gerardo Piacentini; Adriano Carotti; Alessandro Giardini; Roberto M Di Donato; Bruno Marino
Journal:  Eur J Cardiothorac Surg       Date:  2008-12-16       Impact factor: 4.191

8.  Anesthetic implications of Ellis-van Creveld syndrome.

Authors:  Andrew I Abeles; Joseph D Tobias
Journal:  J Clin Anesth       Date:  2008-12       Impact factor: 9.452

9.  Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Authors:  Hakan Ulucan; Davut Gül; Julie C Sapp; John Cockerham; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2008-10-23       Impact factor: 2.103

Review 10.  Ellis-van Creveld syndrome.

Authors:  Geneviève Baujat; Martine Le Merrer
Journal:  Orphanet J Rare Dis       Date:  2007-06-04       Impact factor: 4.123
  10 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

北京卡尤迪生物科技股份有限公司 © 2022-2023.