Ellis Van Creveld Syndrome: A Case Study
INTRODUCTION Ellis–van Creveld syndrome (EVCS) also known as chondro-ectodermal dysplasia or meso-ectodermal dysplasia was initially coined by Ellis of Edinburgh and Simon van Creveld of Amsterdam in 1940. (1) It is a hereditary disorder caused by alterations in an original gene on chromosome 4p16.(2) It determines autosomal recessive inheritance and there is parentral consanguinity in 30% of the cases.(3) The occurrence of this disease in general population is moderately low. This disease is predominant in the Amish population of Pennsylvania of USA. (4) EVC syndrome is one of the rare conditions with a birth prevalence of 7/10, 00, 000. (5) About 150 cases are stated in literature. Around less than 25 cases have been reported in India. (6) …show more content…
The abnormalities include defects of the mitral and tricuspid valves, patent ductus arteriosus, ventricular septal defect, atrial septal defect and hypoplastic left heart syndrome which are the principal causes of decreased life-expectancy in these patients.(6) The presented case also demonstrated characteristic findings of EVCS which included polydactyly of the hands and feet and history of congenital cardiac defect which was operated two years ago. EVCS is a condition with a diverse oral manifestations which include hyperplastic frenula, absence of mucobuccal fold , serrations of the alveolar ridge, partial cleft lip, neonatal teeth, peg shaped laterals , partial anodontia, conical and microdontic teeth and delayed eruption of teeth.(10) In the present case, we reported similar dental manifestations like oligodontia, generalized microdontia, serrations of alveolar ridge, conical shaped teeth with abnormal occlusal anatomy, multiple labial freni, delayed eruption of teeth which was suggestive of
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