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Ellis-Van Creveld Syndrome

Chondroectodermal dysplasiaEllis-Van Creveld Syndrome (EVC)
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Ellis-Van Creveld Syndrome" returned 3 free, full-text review articles. First few results:
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Last Updated: Nov 25, 2016

Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic ...

Ellis-van Creveld syndrome. Case report and literature review.
Last Updated: Dec 11, 2009

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple ...

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3 Free Review Articles 6 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Ellis-Van Creveld Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Ellis-Van Creveld Syndrome" returned 42 free, full-text research articles. First few results:
Oral and craniofacial manifestations of Ellis-Van Creveld syndrome: a systematic review.
Last Updated: Jan 08, 2020

A systematic literature review on oral and craniofacial manifestations of Ellis-Van Creveld syndrome was performed.

Ellis-van Creveld syndrome in a patient from Tanzania.
Last Updated: Sep 30, 2020

We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow ...

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.
Last Updated: Jun 17, 2020

Ellis-van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five-generation ...

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42 Free Research Articles 128 Research Articles