Early craniofacial signs of cleidocranial dysplasia

Early diagnosis of CCD is essential for a timely introduction of the appropriate treatment approach. Since certain symptoms first fully manifest only during the pubertal growth spurt, their indicatory signs are often overlooked. The aim of this study is to describe the initial craniofacial findings in patients with CCD in order to categorise their reliability for early detection.

14 patients with CCD between the ages of 6 and 11 years who were referred to the University of Regensburg over a 4-year period were included in this study. The patients were examined clinically and radiologically and their dental status was determined. Typical signs of CCD were analysed according to such classic criteria as the 'quatermoon'-physiognomy described in the literature. The clinical findings were compared to medical data and case history.

Early signs were registered for each patient. While some signs could be found in all patients, others were variably expressed. The typical extraoral symptoms were only rarely exhibited in our patient population.

As various indicators of CCD are age related, their expression should be taken into account for early diagnosis. Apparent signs only manifest during the growth spurt when the ideal timeframe for beginning treatment has already past. The symptoms described should serve as early markers to aid the general and paediatric dentist in planning appropriate treatment or referring patients to specialised centres.