Complete Bilateral Agenesis of the Diaphragm: A Case Report and Literature Review. (February 2017)

• Record Type: Journal Article
• Authors: Al-Adnani, Mudher; Marnerides, Andreas
• Is Part Of: Pediatric and developmental pathology. Volume 20:Number 1(2017)
• Page Start: 66
• Page End: 71
• Publication Date: 2017-02
• Subjects: diaphragm -- agenesis -- hernia -- imperforate anus -- horseshoe kidney -- genetics; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.1177/1093526616680906
• Languages: English
• ISSNs: 1093-5266

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.