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Case report shows severe congenital diaphragmatic hernia and multisystem anomalies in a neonate, indicating critical prenatal detection benefits.
Congenital diaphragmatic hernia (CDH) associated with neural tube defects is exceedingly rare. We report a female neonate (2550 g) born at 35 weeks (Apgar 2/4/5) with severe left-sided Bochdalek CDH, lumbosacral myelomeningocele, Chiari II malformation, and unilateral renal dysplasia. Maternal history revealed no folic acid supplementation. Despite intensive care and inhaled nitric oxide for persistent pulmonary hypertension, the patient died at 72 h. This case highlights the value of prenatal ultrasound in detecting multisystem anomalies and supports the concept of early embryologic mesodermal disruption, potentially exacerbated by nutritional deficiencies.
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İşleyen et al. (2026) studied this question.
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