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Sporadic case of apparent aprosencephaly
American Journal of Medical Genetics
|January 1, 1979
Summary
This study describes a rare case of apparent aprosencephaly, a severe brain malformation. The infant experienced significant temperature instability and hyponatremia, indicating potential hormonal imbalances.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatrics
Background:
- Aprosencephaly, characterized by the absence of the forebrain, is an extremely rare congenital anomaly.
- Holoprosencephaly is a spectrum of brain malformations resulting from incomplete forebrain division.
- Facial anomalies are often associated with holoprosencephaly, indicating a disruption in early embryonic development.