Tag: genetic counseling

Anencephaly is a severe congenital birth defect characterized by the absence of major portions of the brain, skull, and scalp. The image shows an anterosuperior view of an anencephalic fetus, demonstrating the distinctive facial features and cranial abnormalities that define this condition. This devastating neural tube defect occurs during early embryonic development when the neural tube fails to close properly at the cranial end, resulting in the absence of significant portions of the brain, particularly the cerebrum and cerebellum. Despite these profound structural abnormalities, the brainstem and spinal cord often remain intact, allowing for basic physiological functions in affected fetuses.

In pediatric radiology, encountering rare anatomical variations alongside acute respiratory conditions presents unique diagnostic challenges. Situs inversus totalis, a congenital condition where major visceral organs are reversed from their normal positions, requires careful interpretation of radiological findings, particularly when complicated by acute respiratory infections. This case study examines a 3-month-old male patient presenting with significant respiratory symptoms and the radiological implications of this anatomical variation.