Delayed diagnosis of cleidocranial dysplasia in an adult: A case report

Abstract

Objective. To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. Case report. We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination. Conclusion. Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.

Keywords

• Open frontal fontanel
• Marie and Sainton’s disease
• Cleidocranial dysplasia
• Autosomal dominant