Mutations in type I collagen fibres results is:: (A) Marfan's syndrome, (B) Osteosclerosis, (C) Osteopetrosis, (D) Osteogenesis imperfecta
Answer is D. (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")