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Case of the Week 295



What's the most likely diagnosis?

  • 42 year-old female with chest pain

  1. Pneumothorax
  2. Cleidocranial dysostosis
  3. Right middle lobe pneumonia
  4. Thyroid goiter
  5. Congestive heart failure

Additional Image-abdominal radiograph

 

Additional Image

 

Abdominal and pelvic radiograph


Answer:

 


2. Cleidocranial dysostosis

 

 

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Pancoast Tumor


General Considerations

  • Rare, congenital hereditary dysostosis resulting in delayed or failed ossification of midline structures
    • Especially membranous bones, but enchondral bones are also affected
      • Therefore, skull and clavicles are mostly affected
  • Autosomal dominant with strong familial tendencies
    • Males and females have same chance of being affected
    • Gene for this disorder has been found on Chromosome 6
    • May also occur as a sporadic mutation
  • Major changes are in the skull, clavicles and pelvis 

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