Characterization of dental phenotype in patients with cleidocranial dysplasia using longitudinal data

Abstract

Objective: To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data.

Materials and methods: Twelve unrelated Korean CCD patients were observed using a longitudinal series of radiographs and clinical photographs. Statistical analysis was performed on the dental phenotypic data.

Results: Although dysplasia of the clavicles, open fontanelle, and wormian bone were observed in all 12 patients, delayed fusion of the mandibular symphysis was found in four patients. One patient did not have a supernumerary tooth (ST). However, 62 STs were found in 11 patients (mean, 5.6 per patient; range of ST emergence, 5 years 6 months-14 years 8 months; developing position, occlusal to the permanent incisors, canines, and premolars and distal and apical to the permanent molars). The mandibular premolar region was the most frequent area of ST development (50.0%, P < .001). All 12 patients showed impacted permanent teeth (IPT), including one patient without ST (mean, 17.8 per patient). Impaction occurred most frequently in the mandibular premolar region and least frequently in the maxillary molar region (93.8% vs 39.6%, P < .01). The ratio of spontaneous eruption of IPT after removal of retained deciduous teeth and/or ST was highest for the maxillary and mandibular incisors (all 54.6%) and lowest for the mandibular canines and premolars (26.7% and 28.9%, respectively); however, the difference was not significant.

Conclusions: The emergence time and development position of ST and the root development of IPT should be considered to determine the timing for the removal of ST and forced eruption of IPT.

Keywords: Cleidocranial dysplasia; Dental phenotype; Impacted permanent teeth; Supernumerary tooth.

Figure 1

Chest posteroanterior radiograph and clinical photograph of case 9 (8 years 2 months). Because of aplasia of the clavicles, this patient can bring both shoulders closer together than normal individuals.

Figure 2

Lateral and posteroanterior cephalograms of case 8 (5 years 7 months). Delayed closure of the cranial sutures, open fontanel, and wormian bones are shown.

Figure 3

Orthopantomogram of case 7 (10 years 5 months). Delayed fusion of the mandibular symphysis is shown (white rectangle). There are two supernumerary teeth in the premolar region of the mandible (dotted circle). A total of 15 impaction or delayed eruption of permanent teeth were observed (gray arrow).

Figure 4

Orthopantomogram of case 7. (A) There are eight supernumerary teeth germs in the maxillary and mandibular premolar regions (gray arrow, 11 years 10 months). Delayed fusion of the mandibular symphysis is shown (white rectangle). (B) Eight supernumerary teeth were extracted (12 years 1 month). (C) One supernumerary tooth germ developed again in the lower right premolar region (black arrow, 15 years 8 months). Mandibular symphysis was fused.

Figure 5

Orthopantomogram of case 6 (14 years 9 months). There are eight supernumerary teeth germs in the maxillary and mandibular premolar regions (dotted circle), which developed at the occlusal position to the permanent premolars. One supernumerary tooth germ developed at the apical and distal position to the lower left first molar (black arrow). A total of 17 impaction or delayed eruption of permanent teeth were observed (gray arrow).