Inherited Bone disorders lecture notes Flashcards
Which bones develop from intramembranous ossification
Flat bones of the cranium, clavicle, scapula
Which bones develop from endochondral ossification?
Most bones, long bones
Put very simply, what is the process of endochondral ossification?
Cartilage model first forms, then osteoblasts invade the cartilage, replacing it with bone tissue.
What is the commonest cause of primary osteoporosis?
Osteogenesis imperfecta
Osteogenesis imperfecta is caused by defect related to type _ collagen
Type 1 collagen
Osteogenesis imperfecta is mostly an a______ ______ condition
autosomal dominant
Osteogenesis imperfecta is characterised by low bone mass and increased bone f_____. It is multifaceted
fragility
Type 1 collagen is _____ helix structure, mutation causes hte twisting of the proteins to be disrupted.
triple
The disordered collagen synthesis in osteogenesis imperfecta causes the bone to be…
Structurally deficient
Low bone pass
Increased remodelling
Poor growth
Deformity
Pain
Immobility induced bone loss
What are other features of osteogenesis imperfecta
Blue sclera (white of eyes)
Brittle teeth
What type in the Sillence classification refers to “mild” osteogenesis imperfecta?
Type I
WHat type of the Sillence classification refers to “severe” osteogenesis imperfecta?
Type III
What is rickets
Laying down matrix without mineralisation
What is the impact of under-mineralisation?
Deformities
Fractures
Why do you get swollen wrists in ricekts?
Failure of apoptosis of hypertrophic chondrocytes, accumulation of un-mineralised growth plate cartilage
