Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant
Caffey disease, or infantile cortical hyperostosis, is a rare genetic disorder characterized by abnormal bone formation and swelling of limbs in infants. This case report provides a detailed description of a 2-month-old male infant presenting with deformities of the hands and feet, along with swelli...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Jaypee Brothers Medical Publisher
2024-01-01
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| Series: | Journal of Orthopedics and Joint Surgery |
| Subjects: | |
| Online Access: | https://www.jojs.in/doi/JOJS/pdf/10.5005/jojs-10079-1136 |
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| Summary: | Caffey disease, or infantile cortical hyperostosis, is a rare genetic disorder characterized by abnormal bone formation and swelling of limbs in infants. This case report provides a detailed description of a 2-month-old male infant presenting with deformities of the hands and feet, along with swelling and restricted movement of the limbs. Genetic testing confirmed a mutation in the COLA1A gene, confirming the diagnosis of Caffey disease. The report discusses the clinical presentation, diagnostic evaluation, management, and follow-up of the patient, emphasizing the need for regular monitoring and further research to improve understanding and treatment options for this rare condition. |
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| ISSN: | 2582-7863 |