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Research: Non-isolated Diaphragmatic Hernia in Simpson-Golabi-Behmel Syndrome

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Research: Non-isolated Diaphragmatic Hernia in Simpson-Golabi-Behmel Syndrome

Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis.

 

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