A child is brought to her GP by her mother after breaking bones from trivial falls. Her teeth are discoloured, her sclera have a blue grey colour and she has a history of mild hearing loss. Her older brother has a similar history but with more profound hearing loss and her father has chronic back pain and a history of fractures. What is the diagnosis
3.multiple endocine nephlasm 1
5.Idiopathic juvenile osteoporosis
Osteogenesis imperfecta is an autosomal dominant condition, although a third of cases are spontaneous, in which there is defective or insufficient type 1 collagen. It has multiple subtypes and ranges from mild to lethal. Type 1 is is the most common type in which there is insufficient collagen and signs include fractures from mild trauma, spinal curvature, joint laxity, blue grey sclera, discoloured or translucent teeth and hearing problems. Type 2 is lethal, type 3 causes severe deformity and is progressive.