Mutations in type I collagen fibres results is:
(Osteogenesis imperfecta) (268-M) (153-Apley's 8th)* Osteogenesis imperfecta (Brittle bones) is one of the commonest of the genetic disorders of bone.* Abnormal synthesis and structural defects of type I collagen results in abnormalities of bones teeth, ligaments, sclerae and skin.Clinical features are1. Osteopenia2. Liability to fracture3. Laxity of ligaments4. Blue colouration of the sclerae5. Dentinogenesis imperfecta ("Grumbling teeth")
Marfan's syndrome
Osteosclerosis
Osteopetrosis
Osteogenesis imperfecta
Metabolic Bone Disease