Literature DB >> 22675019

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

Karthik Hegde1, Reema Manoj Puthran, Gopakumar Nair, Preeti P Nair.   

Abstract

Chondro-ectodermal dysplasia is a rare autosomal recessive disorder which affects the ectodermal, mesodermal and endodermal derivatives. There are numerous conditions reported under this title which include Ellis van Creveld syndrome. The oral findings include multiple gingivolabial frena, dental abnormality, malocclusion and hypodontia. The diagnosis of Ellis van Creveld syndrome is based on the presence of oral mucosal changes like notching of the lower alveolus, fusion of the upper lip and gingival mucosa; dental changes like oligodontia, conical shape of anterior teeth and occasional presence of neonatal teeth. The authors report a rare case of Ellis van Creveld syndrome occurring among two siblings with oral mucosal, dental and skeletal abnormalities.

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Year:  2011        PMID: 22675019      PMCID: PMC3207784          DOI: 10.1136/bcr.09.2011.4774

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  18 in total

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10.  Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

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  2 in total

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

Authors:  Mugula Sudhakar Rao; Devavrata Sahu; Hashir Kareem; Tom Devasia; Kishor Kumar Shetty
Journal:  J Clin Diagn Res       Date:  2017-08-01

2.  Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

Authors:  Maria Valencia; Lara Tabet; Nadine Yazbeck; Alia Araj; Victor L Ruiz-Perez; Khalil Charaffedine; Farah Fares; Rebecca Badra; Chantal Farra
Journal:  Case Rep Genet       Date:  2015-04-30
  2 in total

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