Osteogenesis imperfecta is characterized by -
- Blue sclera
- Also known as brittle bone disease
- Collagen defect
- A/W otosclerosis
- All of the above
explanation
Osteogenesis imperfecta, also know as brittle bone disease, is due to defective collagen type 1 synthesis.
It is inherited mostly as autosomal dominant but autosomal recessive pattern also seen in severe form.
Clinical features of osteogenesis imperfecta
Blue sclera
Dentinogenesis imperfecta
Generalized osteoporosis
Osteoporosis given rise to bowing and multiple fractures. Fracture are usually due to trivial trauma but surprisingly heal well.
Other features : Deafness due to otosclerosis, joint laxity, dwarfism, broad skull, poorly calcified decidual teeth (Permanent teeth are normal).
Radiology shows wormian bones in the skull.