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History
  1. Long bones
  2. Mild platyspondyly, mild endplate irregularity
  3. Platyspondyly (flattened vertebrae)
  4. Abnormal spine radiograph
  5. Normal Bone Density
  6. Skeletal survey in a child
Widened metaphyses (dumbbell shaped appearance)

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More marked spinal changes, odontoid hypoplasia, diamond shaped vertebare in older children, narrow thorax, square iliac wing, flat acetabular roof, wide symphysis pubis, severe truncal shortening in childhood
Advanced bone age, Wide iliac wing, coronal cleft vertebra, accessory ossification centre at 3rd distal phalanx, retinal detachment, cataract, sensorineural hearing loss, flat facial features
Unavailable HIgh myopia, retinal detachment, cleft palate, sensorineural hearing loss, usually normal stature, the metaphyseal changes also improve with age, early degenerative changes develop