Figure 1.

Family tree, Presentation of Radiological Findings, and sTf-IEF Pattern

(A) The family of cases 1 and 2 is the index family in this study. Radiological image of a knee in case 1 at the age of 17 years (left panel) and of case 3 at the age of 3.5 years (right panel). Note severe osteopenia, a very thin bone cortex, broad metaphyses, and significant dysplasia of the epiphyses.

(B) sTf-IEF pattern from a control and from the individuals under investigation. The number of negative charges is indicated on the right.