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Acalvaria: a unique congenital anomaly
C P Harris1, J J Townsend, J C Carey
1Department of Pathology, University of Utah, Salt Lake City.
American Journal of Medical Genetics
|July 1, 1993
Summary
Acalvaria is a rare skull defect where calvarial bones are absent but the brain is present. This condition is often misdiagnosed prenatally, highlighting the need for accurate diagnostic methods for this congenital malformation.
Area of Science:
- Developmental Biology
- Medical Genetics
- Pediatric Neurology
Background:
- Acalvaria is a rare congenital malformation characterized by the absence of calvarial bones, dura mater, and associated muscles.
- It is often misdiagnosed prenatally via ultrasonography as anencephaly or encephalocele.
- Unlike anencephaly, acalvaria typically presents with a complete cranial vault, though underlying neuropathological abnormalities may be present.