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
From the case:
Cleidocranial dysostosis
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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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