ArticleJournal of oral and maxillofacial pathology : JOMFP2013
Ellis-van Creveld syndrome: A rare clinical entity.
Article in Journal of oral and maxillofacial pathology : JOMFP, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Cesarean delivery in a pregnant woman with Ellis-van Creveld syndrome: a case report.BMC pregnancy and childbirth · 2026Article
- Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.World journal of methodology · 2025Review
- Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of theMolecular syndromology · 2025Article
- Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.Journal of orthopaedic case reports · 2025Article
- A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2023Article
- Caroli syndrome associated with atrial septal defect and polydactyly: a case report.Journal of medical case reports · 2023Article
- Review
- Oro-facial-digital syndrome type I: a case report with novel features.Autopsy & case reports · 2021Review
- Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach.Case reports in dentistry · 2018Article
- Genome-Wide Association Study of Meiotic Recombination Phenotypes.G3 (Bethesda, Md.) · 2016Article
- Rab23 activities and human cancer-emerging connections and mechanisms.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
- Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Molecular genetics and genomics : MGG · 2016Article
- Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.Case reports in genetics · 2015Article
- Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications.Annals of cardiac anaesthesiaArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.