Cleidocranial dysostosis

Case contributed by Dr Ian Bickle

Presentation

CXR performed for medical fitness to work. No medical history pro-offered.

Patient Data

Age: 31
Gender: Female
X-ray

Dysplastic clavicles, with the lateral third absent bilaterally.

The remainder of the thoracic cage is normal.

Case Discussion

Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance.

A key feature on chest radiograph is the partial or total absence of the clavicles.

Supranumery ribs and vertebral anomalies may also be identified on the chest radiograph.

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Case information

rID: 39822
Case created: 22nd Sep 2015
Last edited: 22nd Sep 2015
Inclusion in quiz mode: Included

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