Figure 2. . Clinical photograph and x-ray of male age two months with the defining COL1A1 p.

Figure 2.

Clinical photograph and x-ray of male age two months with the defining COL1A1 p.Arg1014Cys pathogenic variant who presented with irritability and swelling over the right tibia

Arrows denote the area of swelling on clinical examination and the subperiosteal reaction of the right tibia observed on x-ray. Skeletal survey at presentation also revealed bilateral involvement of the clavicles, radii, and ulnae. Clinical symptoms resolved within a month of onset and periosteal changes remodeled over a period of one year.

From: Caffey Disease

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