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An Official Publication of the Indian Association of Oral and Maxillofacial Pathologists

CASE REPORT Table of Contents   
Year : 2013  |  Volume : 17  |  Issue : 1  |  Page : 132-135
Ellis-van Creveld syndrome: A rare clinical entity

1 Department of Oral Pathology, HP Government Dental College, (IGMC) Shimla, India
2 Department of Periodontics and Implantology, Himachal Institute of Dental Sciences and Research, Paonta Sahib, Sirmour, Himachal Pradesh, India

Correspondence Address:
Reet Kamal
Department of Oral Pathology, HP Govt. Dental College, (IGMC) Shimla, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-029X.110716

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Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.

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Journal of Oral and Maxillofacial Pathology | Published by Wolters Kluwer - Medknow
Online since 15th Aug, 2007