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Cleidocranial dysostosis

Case contributed by Dalia Ibrahim
Diagnosis almost certain

Presentation

Abnormal shape of the chest since birth.

Patient Data

Age: 5 years
Gender: Female
x-ray

Plain x-ray of the chest and both clavicles

  • absent right clavicle
  • the left clavicle shows two small hypoplastic separate segments with absent central portion
  • bell shaped thorax with narrow upper thoracic diameter
  • small relatively high scapulae

Plain x-ray of the cervical spine

  • good alignment
  • incomplete fusion of the posterior neural elements of the examined vertebrae
  • maintained disc spaces
  • no bony cervical ribs
  • the examined lateral skull view showed multiple wormian bones

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