Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence

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.

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