Spondyloepiphyseal dysplasia (SED)
Engelmann's Disease
Progressive diaphyseal dysplasia
- marked thickening of cortices of long bones
Present
Young child with gait disturbance and limb pain
Clinical
Bilateral symmetrical diaphyseal sclerosis of long bones
- Affects endosteal & periosteal new bone
- Metaphysis & epiphysis are normal
Skull base sclerotic
- can get blindness and deafness