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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| Format: | Article |
| Language: | English |
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Jaypee Brothers Medical Publisher
2024-01-01
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| Series: | Journal of Orthopedics and Joint Surgery |
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| Online Access: | https://www.jojs.in/doi/JOJS/pdf/10.5005/jojs-10079-1136 |
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| author | Vagta Ram Kunal Kumar Krishnan Rajeshwari Deepak Kumar |
| author_facet | Vagta Ram Kunal Kumar Krishnan Rajeshwari Deepak Kumar |
| author_sort | Vagta Ram |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-db59c5a85ead4443b60d81fd83b0c1e3 |
| institution | Kabale University |
| issn | 2582-7863 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Jaypee Brothers Medical Publisher |
| record_format | Article |
| series | Journal of Orthopedics and Joint Surgery |
| spelling | doaj-art-db59c5a85ead4443b60d81fd83b0c1e32025-02-07T11:17:47ZengJaypee Brothers Medical PublisherJournal of Orthopedics and Joint Surgery2582-78632024-01-0161828310.5005/jojs-10079-113616Caffey Disease: Genetically Proven Case Report of 2-month-old Indian InfantVagta Ram0Kunal Kumar1Krishnan Rajeshwari2Deepak Kumar3Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, Delhi, IndiaDepartment of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, Delhi, IndiaDepartment of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, Delhi, IndiaDeepak Kumar, Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, Delhi, India, Phone: +91 9211377848Caffey 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.https://www.jojs.in/doi/JOJS/pdf/10.5005/jojs-10079-1136caffey diseasecase reportchildrencol1a1 mutationcongenitalindiainfantile cortical hyperostosismusculoskeletal abnormalitiespediatric |
| spellingShingle | Vagta Ram Kunal Kumar Krishnan Rajeshwari Deepak Kumar Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant Journal of Orthopedics and Joint Surgery caffey disease case report children col1a1 mutation congenital india infantile cortical hyperostosis musculoskeletal abnormalities pediatric |
| title | Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant |
| title_full | Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant |
| title_fullStr | Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant |
| title_full_unstemmed | Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant |
| title_short | Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant |
| title_sort | caffey disease genetically proven case report of 2 month old indian infant |
| topic | caffey disease case report children col1a1 mutation congenital india infantile cortical hyperostosis musculoskeletal abnormalities pediatric |
| url | https://www.jojs.in/doi/JOJS/pdf/10.5005/jojs-10079-1136 |
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