Blue Sclerae in Osteogenesis Imperfecta

Figure 1. A 26-year-old woman (Panel A) and her 6-year-old daughter (Panel B) were evaluated for recurrent bone fractures. Both had blue sclerae. The mother had had a femoral-neck fracture at the age of 3 years and fractures of the elbow and wrist at the age of 10 and 13 years, respectively. All fractures occurred after minimal trauma. The mother also had progressive hearing loss and had lost nearly all her upper and lower molars. Her medical history was otherwise normal. She was short (147 cm) and had no overt skeletal deformities. Biochemical markers of bone metabolism were in the . . .