Figure 1. . Skeletal survey in a five-week-old female with the defining COL1A1 p.

Figure 1.

Skeletal survey in a five-week-old female with the defining COL1A1 p.Arg1014Cys pathogenic variant who presented with painful swelling over the right tibia. Notice widespread involvement with (a) symmetric bilateral periosteal reaction involving the mandible and clavicles; (b) asymmetric involvement of the humerus, proximal shaft of the radius, and distal shaft of the ulna; (c) and (d) tibia and fibula. Arrows point to significant subperiosteal thickening and bowing. Asymmetric reactions of the iliac bones, femurs, tibias, and left fibula were also noted (not shown). Symptoms resolved within a month of onset.

From: Caffey Disease

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2017.
Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2017 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.