A boy with blue sclera and recurrent fractures

A 5-year-old boy was presented with a recurrent history of fractures since the age of 3 years. He had 2–3 admissions per year due to fall and had a history of fractures at his right ankle, left femur and three times at his left elbow. On further questioning, it was found that he was born via spontaneous vaginal delivery. Antenatal and postnatal periods were uneventful and neonatal and development histories were similar to other siblings. No similar illnesses, history of osteoporosis, recurrent fractures or eye problem were found in the family. Examination showed that he was a thin-built boy with a normal gait, vision, speech and hearing. It was noted he had an eye abnormality (Figure 1), but the ear, nose, throat and dentition were normal. The cranial nerve and other neurological tests were also normal. There was no joint hypermobility and the other systems and pure tone audiogram were normal.