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01-07-2011 | Clinical Brief

COL1A1 Mutation in an Indian Child with Caffey Disease

Authors: Prajnya Ranganath, Christine M. Laine, Divya Gupta, Outi Mäkitie, Shubha R. Phadke

Published in: Indian Journal of Pediatrics | Issue 7/2011

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.

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Title: COL1A1 Mutation in an Indian Child with Caffey Disease
Authors: Prajnya Ranganath
Christine M. Laine
Divya Gupta
Outi Mäkitie
Shubha R. Phadke
Publication date: 01-07-2011
Publisher: Springer-Verlag
Published in: Indian Journal of Pediatrics / Issue 7/2011
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-010-0339-z

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COL1A1 Mutation in an Indian Child with Caffey Disease

Abstract

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Abstract

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