Learning Radiology xray montage
 
 
 
 
 
 

Craniometaphyseal Dysplasia
 Pyle's Disease

  • Unknown mode of inheritance

  • Clinical

    • Large, broad head

    • Frontal bossing

    • Mental retardation

    • Cranial nerve abnormalities

      • Optic atrophy

      • Deafness

      • Facial nerve paralysis

  • Imaging

    • Progressive, diffuse hyperostosis of cranial vault, skull base and facial bones

    • Accentuated bands of ossification along suture lines in skull

    • Obliteration of paranasal sinuses and mastoids

    • Flaring and widening of the metaphyses

      • Erlenmeyer flask deformity of the distal femur

  • DDX

    • Undertubulation

      • Common in

        • Anemia

        • Fibrous dysplasia

        • Gaucher’s

        • Healing fractures

      • Uncommon

        • Caffey’s Disease

        • Lead poisoning

        • Pyknodysostosis