If you have ever watch the movie called unbreakable, you might recognize one character called Mr.glass played by Samuel l Jackson. Mr.glass was born with a bone defect that is easily to break. We can found this disease in real life we call it "osteogenesis imperfecta". It is a genetic disease(autosomal dominant) caused by collagen type 1 defect. collagen type 1 is commonly found in eye,ear,skin and bone.This disease present with easily fracture bone but we have to differntial diagnosis this disease with child abuse that might cause bone fracture.
Not only bone fracture can found in patient but blue sclerae also found in patient. The reason why they have blue sclerae because in the have have collagen , so when the collagen synthesis is defect there will be less collagen in the eyes. the eye with less collagen can let the light from choroid pass through. As a result it will cause the blue sclera.
reference Robin basic pathology 10 edition
The last common thing that can found in the patient is hearing defect. Why the patient have hearing defect?
The answer is because in the middle ear it have three small bone call "malleus,incus,stapes" which help our body to hear things better.
But this disease is not hopeless in term of treatment because now we have a drug call bisphosphonates that can help strengthen the bone.
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