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. 2012 May 15;7(5):e36809. doi: 10.1371/journal.pone.0036809

Figure 1. Features of Siblings with Mutations of LEPRE1.

Figure 1

A: The pedigree of the affected family. The arrow indicates the proband. Patient II-3 was electively terminated. B: Radiographs of Patient II-2 as a neonate. There were multiple rib fractures, healed fractures of both femora and the right humerus, and a subacute fracture of the left humerus. Metaphyseal osteopenia was significant. C: Postmortem radiographs of Patient II-3. Bilateral femoral bowing, a healed fracture of the right femoral shaft, thin ribs, and metaphyseal demineralization were shown. D, E: Histological findings of Patient II-3. Irregular trabeculae of woven bones lined by osteoblasts are observed in the humerus (D) and spine (E). The stroma is cellular and consists of fibroblasts and collagen resembling osteofibrous dysplasia.