Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management

Ellis-van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder that affects multiple embryonic tissues. It is primarily caused by mutations in the EVC gene.

We report an 11-year-old male diagnosed with EVC syndrome, who carries a novel homozygous pathogenic mutation, c.1750delC (p.Q584Rfs∗4), in the EVC gene, identified through whole-exome sequencing (WES) and confirmed by Sanger sequencing. Clinical features included multiple aberrant frenula, disproportionate short stature, polydactyly, and dystrophic nails.

The patient received multidisciplinary dental care, including composite restorations and prosthodontic rehabilitation with partial dentures adapted for future tooth eruption. The identification of this specific EVC mutation informed anticipatory dental planning, leading to individualized management strategies for optimal dental care.

This case highlights a novel EVC gene mutation, underscoring the importance of genetic analysis in guiding comprehensive pediatric dental care for EVC syndrome. Early recognition of dental manifestations, coupled with molecular confirmation, supports tailored interventions to optimize oral health outcomes.