title: Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.
abstract: 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.
authors.affiliation: Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania ; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical University College, P.O. Box 2240, Moshi, Tanzania.
authors.forename: Rose H
authors.initials: RH
authors.lastname: Mende
authors.forename: David P
authors.initials: DP
authors.lastname: Drake
authors.forename: Raimos M
authors.initials: RM
authors.lastname: Olomi
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel