The Indian Journal of Pediatrics

, Volume 78, Issue 7, pp 877–879 | Cite as

COL1A1 Mutation in an Indian Child with Caffey Disease

  • Prajnya Ranganath
  • Christine M. Laine
  • Divya Gupta
  • Outi Mäkitie
  • Shubha R. Phadke
Clinical Brief

Abstract

Caffey disease or infantile cortical hyperostosis is a rare skeletal disorder with both sporadic and familial occurrence. The autosomal dominant familial form has been found to be a collagenopathy. The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. This is the first mutation report of an Indian case with Caffey disease.

Keywords

Caffey disease Indian COL1A1 

References

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Copyright information

© Dr. K C Chaudhuri Foundation 2011

Authors and Affiliations

  • Prajnya Ranganath
    • 1
  • Christine M. Laine
    • 2
  • Divya Gupta
    • 1
  • Outi Mäkitie
    • 2
  • Shubha R. Phadke
    • 1
  1. 1.Department of Medical GeneticsSanjay Gandhi Postgraduate Institute of Medical SciencesLucknowIndia
  2. 2.Department of PediatricsHelsinki University Hospital, Helsinki, Finland and Folkhälsan Institute of Genetics, Biomedicum HelsinkiHelsinkiFinland

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