Open AccessEllis Van Creveld Syndrome: A Case Report
Author(s) -
Sarath Kumar Sathish Kumar,
S. Padmavathi,
G Anuradha,
A Kannan,
C. Krithika
Publication year - 2021
Publication title -
journal of pharmaceutical research international
Language(s) - English
Resource type - Journals
ISSN - 2456-9119
DOI - 10.9734/jpri/2021/v33i61b35526
Subject(s) - ectodermal dysplasia , autosomal recessive inheritance , medicine , dermatology , genetic disorder , dysplasia , pediatrics , disease , genetics , pathology , biology , gene
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 1. In this current case, a 9year old female patient reported with typical general and oral manifestations, which were key diagnostic features of EVC syndrome.