Audiological Diagnostics and Treatment of Craniofacial Abnormalities in Cleidocranial Dysplasia CCD

Abstract

Introduction: Cleidocranial dysplasia CCD is a rare genetic disorder connected with mutation in the gene RUNX2. The characteristic feature of this syndrome is a triad of symptoms: hypoplasia or aplasia of clavicles, cranial defects, persistent decidous teeth and multiple supernumerary teeth with consecutive failure in succedaneous teeth eruption. Objective: The aim of the study is to present a CCD patient, in which during orthodontic treatment there was performed a comprehensive hearing test. Case report: The paper presents a 15-year-old patient in whom intraorally there were stated only 4 first permanent molars and 1 lower central incisor while all the remaining teeth were decidous. The CBCT showed 11 impacted supernumerary teeth. Treatment started by surgical exposure and orthodontic traction of the upper incisors into the arch. The introduced fixed appliance seems to be a good solution to pull down impacted anterior teeth. An audiological examination of the patient with CCD revealed normal hearing on the border of norm, however tympanometry may suggest a defect of the auditory ossicles. Conclusion: Active long-term treatment that requires cooperation of many specialists is the correct procedure in CCD cases.