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Acalvaria
V V Khadilkar1, A V Khadilkar, A A Nimbalkar
1Growth and the Pediatric Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32, Sassoon Road, Pune 411 001.
Indian Pediatrics
|July 6, 2004
Summary
Acalvaria, a rare congenital defect where cranial vault bones are missing, is typically fatal. This report details a rare case of a living infant with acalvaria, offering new insights into this condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- Acalvaria is a rare congenital malformation characterized by the absence of cranial vault bones, duramater, and associated muscles.
- While the central nervous system is typically unaffected, acalvaria is often described as a fatal anomaly.
Observation:
- This report presents a rare case of a living infant diagnosed with acalvaria.
- The case is particularly noteworthy due to the rarity of acalvaria in the Indian literature.
Findings:
- The successful survival of a living case challenges the traditionally fatal prognosis associated with acalvaria.
- Detailed documentation of this living case provides valuable data for understanding acalvaria's clinical spectrum.
Implications:
- This case highlights the importance of continued research into the genetic and developmental factors underlying acalvaria.
- Further investigation may lead to improved diagnostic approaches and potential management strategies for acalvaria.
- The findings contribute to a broader understanding of cranial development and congenital malformations.