Awled Brahim Faten*

Department of Pediatric Dentistry, La Rabta Hospital of Tunis, Tunisia

*Corresponding Author: Awled Brahim Faten, Department of Pediatric Dentistry, La Rabta Hospital of Tunis, Tunisia.

Received: March 07, 2025; Published: March 24, 2025

Abstract

Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder caused by mutations in both the EVC1 and EVC2 genes, with a birth prevalence estimated at 7 per 1,000,000 in the general population. Parental inbreeding has been reported in 30% of cases. The syndrome is characterized by chondral and ectodermal dysplasia, leading to features such as short ribs, polydactyly, stunting resulting in dwarfism, dental and craniofacial abnormalities, and cardiac malformations. In two reported cases, a 5-year-old girl and a 9-month-old boy exhibited general and oral manifestations typical of EVC syndrome. Accurate diagnosis during the first months of life is crucial for the overall prognosis of the syndrome. Regular clinical follow-up is essential to prevent complications and to ensure timely management.

Keywords: Autosomal Recessive; Multiple Dental Agenesis; Heart Defects; Polydactyly

References

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Citation

Citation: Awled Brahim Faten. “The Role of The Pediatric Dentist in the Diagnosis and Management of Ellis Van Creveld Syndrome". Acta Scientific Dental Sciences 9.4 (2025): 98-101.

Copyright

Copyright: © 2025 Awled Brahim Faten. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.