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VOLUME 6 , ISSUE 1 ( January-June, 2024 ) > List of Articles


Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant

Vagta Ram, Kunal Kumar, Krishnan Rajeshwari, Deepak Kumar

Keywords : Caffey disease, Case report, Children, COL1A1 mutation, Congenital, India, Infantile cortical hyperostosis, Musculoskeletal abnormalities, Pediatric

Citation Information : Ram V, Kumar K, Rajeshwari K, Kumar D. Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant. 2024; 6 (1):82-83.

DOI: 10.5005/jojs-10079-1136

License: CC BY-NC 4.0

Published Online: 12-01-2024

Copyright Statement:  Copyright © 2024; The Author(s).


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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