Ellis-Van Creveld Syndrome: Report of a Family with 3 Cases

"nEllis-van Creveld Syndrome (EVC) is a rare inherited genetic disorder characterized by polydactyly (extra fingers and toes), dwarfism, and abnormalities in the heart, teeth, nails, and hair. The incidence of EVC is extremely rare in the general population. It is estimated that EVC affects one in 60,000 live births in the general United States population and are much lower in European countries, with one child born with EVC in every 150,000 live births. "nHerein we present three cases of EVC syndrome in one family (An 8-year-old boy and his sisters, two 11 and 6-year-old girls) who were admitted to Birjand Imam Reza hospital complaining of short stature. The clinical findings in the physical examination are explained and the role of plain X-rays, echocardiography and cardiac angiography in the diagnosis and management of the anomalies are discussed in these rare 3 cases.