Journal of Orthopedics and Joint Surgery

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

CASE REPORT

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).


Abstract

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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  1. Caffey J, Silverman W. Infantile cortical hyperostosis, preliminary report of a new syndrome. Am J Roentgenol Radiat Ther 1945;54:1–16.
  2. Gensure RC, Mäkitie O, Barclay C, et al. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest 2005;115(5):1250–1257. DOI: 10.1172/JCI22760
  3. Mazzolari E, Forino C, Razza A, et al. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol 2009;84(8):473–479. DOI: 10.1002/ajh.21447
  4. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck, 4th edition. Oxford University Press; 2001. pp. 153–157.
  5. Thometz JG, DiRaimondo CA. A case of recurrent Caffey disease treated with naproxen. Clin Orthop 1996;323:304–309. DOI: 10.1097/00003086-199602000-00043
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