Ellis–van Creveld Syndrome in a ۴-month-old Child: A Case Report

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical properties of the chest wall in infants with skeletal dysplasia results in decreased functional residual capacity and respiratory insufficiency. Case was a ۴- month-old girl who complained from fever, poor feeding and repeated coughs for one week  before hospitalization to the  hospital in Sazevar city, We presented the case of a ۴-month-old girl who had medical history of EVC. Infants complained from fever, poor feeding and repeated coughs for one week. She had multiple labial frenum in upper and lower jaws. She had long bones. The iliac bones were short and square with transverse orientation of acetabula also she had slight elongation of the thorax with short ribs.EVC should be considered as one of the childhood disorders, which impairs multiple organs as skeletal systems, respiratory disorders and CHD. So, if EVC undiagnosed and remedies poor during childhood, in older ages would reveal disorders. Ellis–Van-Creveld syndrome, mesoectrodermal Dysplasia, Genetic diseases

Keywords:

Ellis–Van-Creveld syndrome , mesoectrodermal Dysplasia , Genetic diseases , case report