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Research Article Open access CC BY 4.0

Ellis Van Creveld Syndrome: A Case Report

Sarath Kumar, S. Padmavathi, G. Anuradha, A. Kannan, C. L. Krithika

Journal of Pharmaceutical Research International · pp. 246–250 · Published 28 Dec 2021

10.9734/jpri/2021/v33i61B35526

Abstract

Ellis Van Creveld Syndrome (EVC) is a infrequent inborn genetic disorder with an x-linked recessive pattern of inheritance. This is recognized by bilateral accessory little finger in upper extremity, short limbs, ectodermal dysplasia affecting teeth and nails, and congenital cardiac defect. The overall prevalence of this disease is 7 in 1000000. In this current case, a 9year old female patient reported with typical general and oral manifestations, which were key diagnostic features of EVC syndrome.

Ellis van creveld syndrome congenital heart defect autosomal recessive

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