Cleidocranial dysostosis

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[edit] Discussion

  • Autosomal dominant disorder
  • Findings
    • Mild shortening of stature
    • Large brachycephalic head (see craniosynostosis) with a small face
    • High, arched palate with delayed eruption of supernumerary teeth.
    • May have genu valgum and short fingers.

[edit] Imaging Findings

  • Poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar invagination is often evident.
  • Absence of the clavicles (either partial or total) may be observed
  • Other findings include:
    • Hypoplastic scapula
    • Bell-shaped thorax
    • Pelvic changes including delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings.
    • Coxa valga or coxa vara deformity may also develop
    • Spina bifida occulta is present in some cases

[edit] Images

Patient #1

Patient #2

[edit] See Also

[edit] External Links

[edit] References