Cleidocranial dysostosis

Case contributed by Dr Aneta Kecler - Pietrzyk

Presentation

12 years old boy from foster care referred by GP with persistent cough. On examination forehead deformity (central concavity) and poor dentition was noted. No past medical or surgical history.

Patient Data

Age: 12
Gender: Male
X-ray

Bilateral absence of clavicles.

Normal cardiomediastinal contour. Lungs are clear.

Case Discussion

Cleidocranial dystostosis a.k.a. cleidocranial dysplasia, is an inherited disorder (autosomal dominant) that affects normal development of the clavicles, frontal bones and eruption of the permanent teeth.  

Other bones may be also affected such as scapulae, iliac bones, and pubic bones. 

Imaging is important to establish the diagnosis. 

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Case information

rID: 53997
Case created: 18th Jun 2017
Last edited: 22nd Jul 2017
Tag: rapids
Inclusion in quiz mode: Included

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