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- 2018
Oral Ellis-van Creveld Syndrome: A Brief Review of Literature and A Case Report - Oral Ellis-van Creveld Syndrome: A Brief Review of Literature and A Case Report - Open Access PubDOI: 10.14302/issn.2473-1005.jdoi-16-1137 Abstract: EVC syndrome is a rare autosomal recessive genetic syndrome which its exact prevalence is unknown. The main manifestations of EVC include condro-ectodermal dysplasia, polydactyly, congenital heart defects and tooth and nail hypoplasia, and the survival rate of patients depends on the heart disease. EVC should be differentiated from other chondrodystrophia such as Achondroplasia and Jeune syndrome. Few cases of this syndrome have been reported in dental literature. This article is a brief review about the main orofacial features of EVC and reported all Prosthodontics and Restorative treatment of a 7-year-old girl that was born in prone family to EVC and presenting typical features of this syndrome. DOI10.14302/issn.2473-1005.jdoi-16-1137 Ellis-Van Creveld (EVC) syndrome is a rare disease 1, 2 that is a result of mutations in two non-homolog genes EVC1 and EVC2 on chromosome 14p16 2, 4. The syndrome was first introduced by Ellis and Van Creveld in 1940 5. Another name for this syndrome is meso-ectodrmal dysplasia or chondroectdermal dysplasia. The incidence of EVC in general population is low 6.This syndrome is most prevalent inthe Amish population of USA.Thebirth prevalence in Amishpopulation non is estimated to be 7/1.000.000 of live birth5, 6 This disease is inherited in a autosomal recessive form and all three germ cell layers are involved 6, 7 but heterozygous individuals are asymptomatic 6. According to reports that have been published, EVC has similar prevalence in men and women 7. Diagnosis of the disease does not require genetic analysis, but x-rays, laboratory examinations, and clinical heart tests are necessary for clinical diagnosis 4. Prenatal diagnosis by ultrasonography is possible after the eighteenth week of pregnancy 7. Clinical manifestation of this disease is observed as Tetrad 4, 6: Condroectodermal Dysplasia: The height is below the third percentile at birth and will remain below the third percentile until adulthood in patients 3 and the final height is often reported 119 to 161 cm 1. Fortunately, people with this syndrome have normal intelligence 6, 3 and their congenital evolution is normal 1. Postaxial Polydactyly Congenital Heart Defects: In this syndrome, hematologic disorders and endrodermal organ involvement, except for heart, is rare 2. Congenital heart defect, single atria disorders and valvular defects are observed in 50to 60 % of subjects 1, 6 and the survival rate depends on the severity of heart disease 6. Prognosis is also related to lung problems in the first month of birth which are associated with chest tightness and
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