Pyknodysostosis

Etiology: congenital
Imaging: generalized osteosclerosis, short stature, short broad hands, frequent fractures, Wormian bones
DDX: differentiate from osteopetrosis by absence of bone in bone
Clinical: acromelic skeletal dysplasia

Radiology Cases of Pyknodysostosis

CT and skull radiographs of pyknodysostosis — AP and lateral radiographs of the skull (above) and axial CT without contrast of the brain (below) shows diffusely sclerotic skull bones with a thickened diploic space and diastatis of the coronal and lambdoid and sagittal sutures.

Lower extremity radiograph of pyknodysostosis — AP radiographs of the lower extremities shows generalized osteosclerosis of the bones without a bone in bone appearance.