Literature DB >> 7218275

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

E O da Silva, D Janovitz, S C de Albuquerque.   

Abstract

An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.

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Mesh：

Year:  1980        PMID： 7218275      PMCID： PMC1048597          DOI： 10.1136/jmg.17.5.349

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  14 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.  Congenital heart disease in an adult with the Ellis-van Creveld syndrome.

Authors:  F E TUBBS; L CREVASSE; J R GREEN
Journal:  Ann Intern Med       Date:  1962-11       Impact factor: 25.391

3.  Ellis-Van Creveld syndrome; report of two cases in siblings.

Authors:  F N MITCHELL; W W WADDELL
Journal:  Acta Paediatr       Date:  1958-03       Impact factor: 2.299

4.  Ellis-van Creveld syndrome. An inbred kindred with five cases.

Authors:  A Waldrigues; L C Grohmann; T Takahashi; H M Reis
Journal:  Rev Bras Pesqui Med Biol       Date:  1977-06

5.  [Ellis-Van Creveld syndrome].

Authors:  M L Martínez Frias; A Sánchez Cascos
Journal:  Rev Clin Esp       Date:  1974-05-31       Impact factor: 1.556

6.  [Congenital heart disease in the Ellis-van Creveld syndrome. Review of the literature and report of one case (author's transl)].

Authors:  C Franz; U Mennicken; H O Bützler; L Henscher
Journal:  Z Kinderheilkd       Date:  1974

7.  [A case of Ellis Van Creveld syndrome in a 61-year-old man].

Authors:  G Laporte; J David-Chaussé
Journal:  Bord Med       Date:  1971-01

8.  [Digital and palmar dermatoglyphics in normal patients of the population of São Paulo].

Authors:  S P Toledo; S G Saldanha; R Laurenti; P H Saldanha
Journal:  Rev Paul Med       Date:  1969-07-01

9.  The Ellis-van Creveld syndrome. Case report and cytogenetic stu.

Authors:  P L Patriarca; I V Lambertenghi; G P Ninatti
Journal:  Minerva Med       Date:  1968-01-20       Impact factor: 4.806

10.  Ellis-van Creveld syndrome in identical twins.

Authors:  D Goor; Y Rotem; A Friedman; H N Neufeld
Journal:  Br Heart J       Date:  1965-11
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  17 in total

Review 1.  Diagnosing abuse: a systematic review of torn frenum and other intra-oral injuries.

Authors:  Sabine Maguire; Bruce Hunter; Lindsay Hunter; Jo Richard Sibert; Mala Mann; Alison Mary Kemp
Journal:  Arch Dis Child       Date:  2007-04-27       Impact factor: 3.791

2.  Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report.

Authors:  Alaee Ehsan; Shirafkan Ali; Hasheminejad Reihane; Tourisa Deilami; Alireza Kia
Journal:  J Clin Diagn Res       Date:  2014-10-20

3.  Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Authors:  Stuart W J Tompson; Victor L Ruiz-Perez; Helen J Blair; Stephanie Barton; Victoria Navarro; Joanne L Robson; Michael J Wright; Judith A Goodship
Journal:  Hum Genet       Date:  2006-09-21       Impact factor: 4.132

4.  Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.

Authors:  Lisong Shi; Chunyan Luo; Mairaj K Ahmed; Ali B Attaie; Xiaoqian Ye
Journal:  Mol Genet Genomics       Date:  2015-11-30       Impact factor: 3.291

5.  Evaluation of newborns with skeletal dysplasias.

Authors:  R I Macpherson; G S Pai
Journal:  Indian J Pediatr       Date:  2000-12       Impact factor: 1.967

6.  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

7.  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

8.  Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.

Authors:  S E Levin; R Dansky; S Milner; A Benatar; K Govendrageloo; J du Plessis
Journal:  Pediatr Cardiol       Date:  1995 Sep-Oct       Impact factor: 1.655

9.  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 10.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374
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