Multidisciplinary management of cleidocranial dysplasia

BackgroundCleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or osteodental dysplasia, is an autosomal dominant disorder caused by a microdeletion defect in chromosome 6p21. The causative factor of this disorder is a mutation in the gene encoding in the transcription factor core binding factor α 1 (CBFA1), and its incidence is 1 in 100,000 population. The aims of this clinical paper are to illustrate the ways of diagnosing and treating CCD as stated in the literature, and to report the multidisciplinary management of a patient with this condition.MethodsClinical and radiographic examinations are primordial for diagnosis because the most frequent features of CCD are a pathognomonic deformity of the skull (open skull sutures and delayed closing of cranial fontanels, presence of multiple Wormian bones), midfacial hypoplasia, a wide forehead, pronounced frontal bossing and hypertelorism, supernumerary and impacted teeth, hypoplastic or absent clavicles, and short stature. The diagnosis of CCD is obvious when there is a family history.ResultsMany solutions for the treatment of dental disorders in CCD have been suggested, and the intervention of several dental specialists, namely, the oral surgeon, orthodontist, periodontist, and maxillofacial surgeon, was required to achieve optimal results.ConclusionOrthodontic treatment brought all of the teeth on the arches, and the patient was able to sustain orthognathic surgery to correct the skeletal open bite and Class III relationship.