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We report the case of a 14-month-old female who had a right-sided congenital diaphragmatic hernia (CDH) without pulmonary hypoplasia. The patient was preoperatively diagnosed with a Morgagni hernia due to the size and location of the hernia seen on imaging. However, the patient was found to have bilateral diaphragmatic defects intraoperatively, and her right diaphragm was almost completely absent. Our patient did not have pulmonary hypoplasia or any of the respiratory comorbidities that CDH patients typically present with, though she did have repeated respiratory infections and cough. This case demonstrates that CDH is not always diagnosed in an accurate or timely manner radiographically and that the surgeon should be prepared to potentially repair more of the diaphragm than expected. Additionally, there is a need to study the pathophysiology and genetics of CDHs further.
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Mahmood et al. (2020) studied this question.
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