J Med Case Rep
. 2023 Apr 21;17(1):183.
doi: 10.1186/s13256-023-03910-4. https://pubmed.ncbi.nlm.nih.gov/37081543/
Right-side diaphragmatic eventration with atrial septa defect and cleft palate in an infant: a case report
Free PMC article
Background: Congenital right-side diaphragmatic eventration with atrial septal defect and cleft palate is a rare congenital anomaly.
Case presentation: We present a rare case of congenital right-sided diaphragmatic eventration along with atrial septal defect, cleft palate, pneumonia, and undernutrition in a 3-month-old Asian and Afghan girl. The clinical features were observed in the third month of life, and the diagnosis of these anomalies was established by the patient’s history, physical examination, chest X-ray, thoracic computed tomography, and echocardiography. Her condition was good after supportive treatment. Since the index case of diaphragmatic eventration was associated with congenital heart disease, cleft palate, and parental consanguinity, a genetic basis may have played an important role in the pathogenesis of this anomaly.
Conclusion: Eventration of the diaphragm may be diagnosed in early infancy, and genetic factors may contribute to its pathogenesis.
Keywords: ASD and cleft palate; Diaphragmatic eventration.
© 2023. The Author(s).