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A Case Report on Copper Beaten Skull Appearance: A Forgotten Entity.
Prayas Sarda1, Keta Vagha2, Sneha Kenjale3
1Medicine and Surgery, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Cureus
|December 2, 2022
Summary
Crouzon syndrome, a genetic condition causing skull and facial abnormalities, is linked to FGFR-2 gene mutations. This case highlights typical symptoms and the association with a copper-beaten skull, indicating potential brain growth disruption.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Surgery
Background:
- Crouzon syndrome is an autosomal dominant disorder affecting skull and facial development.
- It is the most common craniosynostosis condition, accounting for 4.8% of cases.
- The syndrome results from fibroblast growth factor receptor-2 (FGFR-2) gene mutations, leading to premature closure of cranial sutures.
Observation:
- A case study of a four-year-old child with Crouzon syndrome is presented.
- The child exhibited classic symptoms including craniosynostosis, hypertelorism, and a flattened nasal bridge.
- Radiographs revealed a characteristic copper-beaten skull appearance.
Findings:
- The copper-beaten skull pattern suggests potential disruption of normal brain growth.
- Elevated intracranial pressure is often associated with this radiographic finding.
- The study investigates the link between Crouzon syndrome and the copper-beaten skull phenomenon.
Implications:
- Early diagnosis and management of Crouzon syndrome are crucial for preventing complications.
- Understanding the association with copper-beaten skull can aid in diagnosing and managing intracranial pressure.
- Further research is needed to fully elucidate the relationship between genetic mutations and radiographic findings in craniosynostosis.
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