An eighteen month-old infant with Cornelia de Lange syndrome: a case report

Abstract

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. <br/>In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. <br/>In this article we present an infant with multiple congenital anomaly who finally diagnosed as Cornelia de Lange syndrome.