Open AccessEllis-van Creveld syndrome affecting siblings: A case report and review
Author(s) -
Rajeshwari G Annigeri,
V.V. Subba Reddy,
GP Mamatha,
Manisha Jadhav,
P Poornima
Publication year - 2014
Publication title -
cods - journal of dentistry
Language(s) - English
Resource type - Journals
ISSN - 2230-8695
DOI - 10.5005/cods-6-1-40
Subject(s) - hypodontia , polydactyly , ectodermal dysplasia , medicine , dental anomalies , dermatology , short stature , pediatrics , frontal bossing , dysplasia , genetic disorder , anatomy , disease , pathology , orthodontics
Ellis-van Creveld syndrome (EVC) is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. EVC is a rare autosomal recessive disease resulting from a genetic defect located in chromosome 4p16. The name chondroectodermal is used as it affects both the skeleton (chondro) and the skin (ectoderm). The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The patients have small stature, short limbs, fine sparse hair and hypoplastic nails. The orofacial manifestations include multiple gingivolabial musculofibrous frenule, dental anomalies like hypodontia associated with malocclusion. This entity can be diagnosed at any age, even during pregnancy. The differentiation should be made between Asphyxiating Thoracic Dysplasia (Jeune syndrome) and other orofaciodigital syndromes. A multidisciplinary approach is required to manage this condition. We are reporting a rare clinical entity of chondroectodermal dysplasia with classical signs affecting siblings who reported to the Department of Oral Medicine and Radiology with review of its literature. How to cite this article Mamatha GP, Manisha J, Rajeshwari GA, Poornima P, Subba Reddy VV. Ellis-van Creveld syndrome affecting siblings – A case report and review. CODS J Dent 2014;6;40-44