Figure 1. . Skeletal survey in a female age five weeks with the defining COL1A1 p.

Figure 1.

Skeletal survey in a female age five weeks with the defining COL1A1 p.Arg1014Cys pathogenic variant who presented with painful swelling over the right tibia

Note widespread involvement with (a) symmetric bilateral periosteal reaction involving the mandible and clavicles; and asymmetric involvement of (b) the humerus, proximal shaft of the radius, and distal shaft of the ulna; and of (c,d) the 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

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