Picture quiz: A child with multiple fractures
A 3 year old boy presented with injuries after tripping and falling at home. His parents observed the incident and gave a history of a low impact fall. On examination he was distressed and clearly in pain, with bruising, tenderness, and deformity of both the left upper limb and right lower limb. He had a temperature of 37.8 degree C, his pulse rate was 110 beats/min, and his respiratory rate was 25 breaths/min. On auscultation, heart sounds were normal. Also, the patient had blue sclera and brown-grey discolouration of his teeth.
Plain radiographs are shown in figs 1 and 2. His parents reported that there is a family history of this condition, as shown by the pedigree in fig 3.
Numerous extraskeletal manifestations may occur, as type 1 collagen also exists in tendons, ligaments, skin, sclera, teeth, and the middle and inner ear. The most common clinical signs and symptoms