Fig. 1

a) Pedigree of the family with osteogenesis imperfecta. Affected individuals are marked with black symbols, arrows indicate patients whose phenotypes are described in the text. Asterisks indicate individuals whose DNA was not available for the study. II:1 and II:2 are estimated to be first cousins (IBD proportion ~ 11%). III:3 and III:6 are half-siblings (IBD proportion ~ 21%). b) Patient 1 at age 11 years with severe short stature, short neck, small thorax and long-bone deformities with marked anterior bowing of the bones. He had slightly blue sclerae and a mild squint. c) Patient 2 at 10 years was wheel-chair bound and had marked skeletal deformities with anterior angulation of the long bones in lower limbs. d) Radiographs of Patient 2 at 10 years showing severe osteoporosis with thin ribs, flat vertebrae, and osteopenia of the humeri. e) The femoral bone modeling was normal but both femurs were significantly bent