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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

  • X-ray

    • 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

 

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