Cornelia de Lange Syndrome : A Newborn with Imperforate Anus and a NIPBL Mutation

Abstract EN

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay.

Gastrointestinal anomalies are common and an important cause of morbidity and mortality.

We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus.

This is the third report of Cornelia de Lange syndrome and imperforate anus.