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  • Title: Delayed diagnosis of cleidocranial dysplasia in an adult: a case report.
    Author: Gömleksiz C, Arslan E, Arslan S, Pusat S, Arslan EA.
    Journal: Acta Med Acad; 2014; 43(1):92-6. PubMed ID: 24893645.
    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.
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