Cleidocranial dysostosis

Case contributed by Dr Aneta Kecler-Pietrzyk

Presentation

Referred by GP with persistent cough. On examination forehead deformity (central concavity) and poor dentition were noted. No past medical or surgical history.

Patient Data

Age: 12 years
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 also be affected such as the scapulae, iliac bones, and pubic bones.

Imaging is important to establish the diagnosis.

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Case information

rID: 53997
Published: 18th Jun 2017
Last edited: 18th Feb 2020
Inclusion in quiz mode: Included

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