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Updated: Mar 6, 2026

Diaphragmatic Ultrasound in Adults: Image Acquisition and Interpretation
Published on: January 31, 2025
Complete Bilateral Agenesis of the Diaphragm
Mudher Al-Adnani1, Andreas Marnerides1
11 Department of Cellular Pathology, Guy's and St Thomas' Hospital, London, UK.
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.
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