Journal of Orthopedics and Joint Surgery

Register      Login

SEARCH WITHIN CONTENT

FIND ARTICLE

Volume / Issue

Online First

Archive
Volume  6 (2024)
Volume  5 (2023)
Volume  4 (2022)
Volume  3 (2021)
Volume  2 (2020)
Volume  1 (2019)
Related articles

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.

HTML PDF Share
  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
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.