%0 Case Reports
%T Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence.
%A Ghosh B
%A Sahai I
%A Agrawal G
%A Acharya S
%A Christopher J
%J Cureus
%V 14
%N 10
%D Oct 2022
%M 36381850
暂无%R 10.7759/cureus.29846
%X Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the EVC2 gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.