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

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. 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. In this article we present an infant with multiple congenital anomaly who finally diagnosed as Cornelia de Lange syndrome.

کلیدواژه ها:

Cornelia de Lange syndrome ، Congenital anomaly ، neonate