Cleidocranial dysostosis

Case contributed by Hugh Harvey
Diagnosis certain

Presentation

An asymptomatic 6 week old girl with hypermobile shoulders, and who's mother had cleido-cranial dysostosis. Chest X-ray was performed to confirm the diagnosis.

Patient Data

Age: 6 weeks
Gender: Female
x-ray

The clavicles are markedly hypoplastic, lacking lateral ends. The rib cage is narrow superiorly with an overall bell-shaped configuration. The scapulae are high, hypoplastic and externally rotated.

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