Report of Ellis–Van Creveld Syndrome: A Chondroectodermal Dysplasia

Ellis-Van Creveld (EVC) syndrome, otherwise known as chondroectodermal dysplasia, is a genetic disorder with cardiac and skeletal manifestations. The four main characteristics of EVC syndrome include chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. Changes in the mechanical properties of the chest wall in infants with skeletal dysplasia reduce the functional residual capacity and cause respiratory failure. Here, we describe the case of a female patient with symptoms, including fever, poor feeding, and frequent cough, for one week before admission to a hospital in Sabzevar, Iran. The patient was a four-month-old girl with a medical history of EVC syndrome. She complained of fever, poor feeding, and repeated cough for one week. She had multiple labial frenal attachments in the upper and lower jaws, as well as long bones. The iliac bones were short and square-shaped, with the acetabulum in a transverse orientation. Slight elongation of the chest, along with short ribs, was also observed. Based on the findings, EVC syndrome should be considered as a pediatric disorder, which can damage multiple organs, including the skeletal system, and cause respiratory disorders and congenital heart disease. If this syndrome is not diagnosed in childhood, due to poor available treatments, patients will be at risk of disorders at older age.