Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: a case report

Abstract

IntroductionCleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the Cbfa1 gene, also called Runx2, located on the short arm of chromosome 6. It primarily affects bones which undergo intramembranous ossification. This condition is of clinical significance to dentistry due to the involvement of the facial bones, altered eruption patterns and multiple supernumerary teeth.Case presentationOur patient, a 15-year-old Indian girl, presented with the typical features of prolonged retention of deciduous dentition and delayed eruption of permanent teeth, that is, mandibular prognathism along with other skeletal abnormalities like shrugged shoulder and the absence of clavicles. A multidisciplinary approach was followed, comprising orthodontic, surgical and pedodontic teams for management.ConclusionSuccessful treatment of such a case lies in a holistic approach that takes care of all aspects, including the primary pathology, the deformity itself and even the psychological angle.

Prevalence, etiology, diagnosis, treatment and complications of supernumerary teeth

“…A study ( 37 ) of 205 patients with harelip and cleft palate found a frequency of supernumerary teeth of 11.7%. Several other studies ( 38 , 39 ) have observed cases of cleidocraneal dysplasia with the presence of supernumerary teeth. The gene responsible for cleidocraneal dysplasia is the RUNX2 and mutations of this gene could explain the existing correlation between the syndrome and the presence of supernumerary teeth ( 40 ).…”

Cleidocranial dysplasia-dental disorder treatment and audiology diagnosis

“…As such, one of the basic problems in orthodontic therapy of CCD is their correct diagnosis and removal. It is worth noting that of the five reports described above, only in one publication [13] did the researchers use Cone Beam Computed Tomography to plan treatment. In this author’s case, the CCD treatment plan and surgical-orthodontic therapy was preceded by CBCT.…”

“…The difference lies in the orthodontic appliances used to expose the retained teeth. The use of both fixed [13,14] and removable appliances were described [12,15], and a removable device was used in our own case. However, it is important to emphasize the fact that in such therapy, working directly with the patient is indispensable, as such cooperation strongly affects the final result – the lifespan of the appliance and the patient’s fixing of the elastic traction on their own significantly affects the outcome of the therapy.…”

“…The analysis of surgical-orthodontic procedures described by other authors includes only one report on the completed treatment, of two CCD cases [13], but no information was found on the need to pay attention to hearing diagnosis. This is in spite of the fact that the literature does indicate that patients with CCD have otolaryngological problems, including conductive or sensory-neural hearing loss [2,6,8].…”

“…Nagarathna et al [13] described a 15-year-old CCD patient. In the course of treatment, all front deciduous teeth of the mandible and supernumerary teeth were removed, retained front teeth of the mandible were uncovered, orthodontic brackets were attached to them and therapy was started.…”