Oral manifestations in Ellis-van Creveld syndrome: a case report

Abstract

Introduction: Ellis-van Creveld (EVC) syndrome is an uncommon genetic disease that can be diagnosed at any age. Observation: A case of EVC syndrome was reported in a young 3-year-old female patient presenting chondroectodermal dysplasia, polydactyly, congenital heart defects, damage to the oral mucosa and numerous dental alterations (number, form and structure). Oral management consists of teaching oral hygiene and the prophylactic filling of dental cracks. Discussion: EVC is an autosomal recessive disease. Its diagnosis is only based on clinical features and genetic studies. Conclusion: Dentists should be aware of this syndrome to avoid a late diagnosis and to facilitate a multidisciplinary management.

Ellis-van Creveld Syndrome

“…3 Its prevalence varies from 1 to 7 in one million in the general population, but some communities (Amish) do not always report this disorder officially, and all the cases remain poorly investigated. 4 In a majority of patients with this diagnosis, lack of motor development and intelligence delays are observed. 4 However, nearly half of this population do not survive childhood due to cardiopulmonary malformations.…”

“…4 In a majority of patients with this diagnosis, lack of motor development and intelligence delays are observed. 4 However, nearly half of this population do not survive childhood due to cardiopulmonary malformations. 4 Other distinctive features of this condition may include bowed legs with several toes showing syndactyly and stunted growth.…”

“…4 However, nearly half of this population do not survive childhood due to cardiopulmonary malformations. 4 Other distinctive features of this condition may include bowed legs with several toes showing syndactyly and stunted growth. 3 In this report, attention will be paid to one particular patient to investigate the main signs, family history, diagnostic and assessment techniques, and available treatment plans for Ellisvan Creveld syndrome.…”