ArticleInternational journal of surgery case reports2017
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome.
Article in International journal of surgery case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2019Trial
- Cesarean delivery in a pregnant woman with Ellis-van Creveld syndrome: a case report.BMC pregnancy and childbirth · 2026Article
- Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.Case reports in dentistry · 2025Article
- A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2023Article
- Establishing an objective clinical spectrum, genotype-phenotype correlations, andGenetics in medicine open · 2023Review
- Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia.Cureus · 2021Article
- Ellis-van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East.Acta medica Lituanic · 2021Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionEllis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES: We report on a Saudi family with two affected children. Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. The most interesting finding in our patients was the wide - spread cone-shaped epiphyses in the hands and feet. DISCUSSION: Although cone-shaped epiphyses is a known feature of EVC syndrome, it usually limited to the middle or proximal phalanges. The wide-spread cone-shaped epiphyses seen in our patients have not been previously reported.
conclusionEVC syndrome is very rare in the Middle East. We report on the first Saudi family with EVC syndrome confirmed by gene analysis. The most unique finding in our patients was the wide-spread cone-shaped epiphyses in the hands and feet. The abnormality is probably related to abnormal Indian hedgehog signaling in the primary cilium.
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