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Summary
Holoprosencephaly diagnosis can be challenging, especially when facial anomalies are absent. Advanced imaging techniques like CT scans and specific vascular findings aid in identifying this brain malformation.
Area of Science:
- Developmental Neuroscience
- Pediatric Neurology
- Medical Imaging
Background:
- Holoprosencephaly is a congenital brain malformation characterized by incomplete separation of the forebrain.
- Clinical presentation varies, with facial dysmorphia present in some but not all cases, complicating diagnosis.