hrp0089p2-p269 | Growth & Syndromes P2 | ESPE2018
, Demirkol Yasemin Kendir
, Yılmaz Gulay Can
, Ozcora Gul Demet
, Yenigurbuz Fatma
Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...