Infantile coarctation of the aorta in a child with Ellis van Creveld syndrome: case report

We report a 18-month-old boy with multiple malformations detected postnataly indicating Ellis van Creveld syndrome. Due to suspicion of a heart defect, ultrasound examination was performed and infantile coarctation of the aorta diagnosed. At the age of 13 days he underwent surgical repair, and later balloon dilation of recoarctation was successfully performed. He is now in good condition with no medical treatment and has started ortopedic corrective procedures. Accorrding to our knowledge this is the first case of Ellis van Creveld syndrome with infantile coarctation of the aorta.