title: Complete Bilateral Agenesis of the Diaphragm.
abstract: Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm. We also present a review of previous cases of total diaphragm agenesis published in the English language and provide some insights about pathogenesis.
authors.affiliation: 1 Department of Cellular Pathology, Guy's and St Thomas' Hospital, London, UK.
authors.forename: Mudher
authors.initials: M
authors.lastname: Al-Adnani
authors.affiliation: 1 Department of Cellular Pathology, Guy's and St Thomas' Hospital, London, UK.
authors.forename: Andreas
authors.initials: A
authors.lastname: Marnerides
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000025:Abortion, Eugenic; D000328:Adult; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015619:Respiratory System Abnormalities / Q000175:diagnosis*
keywords: agenesis; diaphragm; genetics; hernia; horseshoe kidney; imperforate anus