Osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. OI may also present with shorter height, neurological features including communicating hydrocephalus, basilar invagination, and seizures, blue sclerae, hearing loss, or other complications. The fractures themselves can cause acute or chronic pain, reduced quality of life, and depression.
People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes, both of which code for type I collagen. Diagnosis of OI is based on the clinical features and may be confirmed by collagen or DNA testing.
There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. Treatment includes bisphosphonates, surgery, physical therapy, and physical aids.
Podcasts:
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by Richard Walters
Brittle Bones
by: Richard WaltersCome on little light you know my name
It's only going to break you in the end
Nothing you can say could make it right
Only in the way of what you know
Come on to the floor your brittle bones
Don't be a fool
Don't let me go
And we danced in the dark on the stairs
Like the people had pushed us out the room
Come on little light you stupid thing
It's only going to hurt you in the end
Nothing you could say could make it right
Only in the way of what you know
Come on to the floor your brittle bones
Don't be a fool
Don't let me go
And we danced in the dark on the stairs
Like the people had pushed us out the room
And we kissed on the crowded stairs
Like we didn't know anyone was there
It's nothing
It's nothing
It is nothing
Oooooo home
Down, down, down we go
And we danced in the dark on the stairs
Like we didn't know anyone was there
It's nothing
It is...
It is nothing
Ohhh yeah
Oooooo home
Down, down, down we go
And we kissed in the dark on the stairs