Abstract:
Ellis–van Creveld syndrome is a rare autosomal recessive disorder
caused by mutations in the EVC and EVC2 genes. The four principal
manifestations are chondrodysplasia, polydactyly, ectodermal dysplasia
and congenital heart defects. We describe the case of a 7-year-old girl
with Ellis–van Creveld Syndrome with the diagnosis of common atrium and
partial atrioventricular septal defect. She underwent a successful
surgical repair, and intraoperatively, a double orifice mitral valve was
diagnosed as well. The correct diagnosis of this disorder in early life
is essential in the overall prognosis of the syndrome. Clinical
follow-up at regular intervals is very important in these patients to
institute proper managements and prevent further complications.