ArticleJournal of orthopaedic case reports2025
Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.
Article in Journal of orthopaedic case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.Case reports in dentistry · 2025Article
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2 authors.
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Abstract
Introduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes. Case Report: We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking. The patient exhibited classic features of EVC, including short stature, bilateral polydactyly, dysplastic nails, dental anomalies, and a history of cardiac defects. Radiological evaluation confirmed the diagnosis. Conclusion: This case highlights the importance of early diagnosis and comprehensive management in EVC syndrome. Recognizing the characteristic clinical features is key to timely intervention and improved quality of life.
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