Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields.

Certain discrete malpositions of the human canine tooth and agenesis of at least 1 tooth (hypodontia) are abnormalities known to occur together frequently. This study examines the specificity of tooth-agenesis sites associated with the occurrence of 3 unambiguous canine malpositions: palatally displaced canine (PDC; n = 58), mandibular lateral incisor-canine transposition (Mn.I2.C; n = 60), and maxillary canine-first premolar transposition (Mx.C.P1; n = 43). A fourth sample was formed from 4 cases of combined occurrence of PDC and Mn.I2.C, the only combination-phenotype noted among the 161 subjects. Oral panoramic radiographs were used to identify agenesis of at least 1 third molar (M3), mandibular second premolar (MnP2), and maxillary lateral incisor (MxI2)-the 3 most frequently absent tooth types among people of European descent. PDC and Mn.I2.C transposition appear to be associated with significantly increased M3 agenesis (P <.01), representing the posterior orofacial field, and Mx.C.P1 transposition appears to be associated with conspicuously elevated MxI2 agenesis (P <.001), representing the anterior orofacial field. MnP2 agenesis appears to represent an intermediate field, found in significantly elevated frequencies with all 3 canine positional anomalies. Coupling these new clinical findings with results from recent molecular studies, we suggest that transcription factors such as MSX1 and PAX9, which have been associated with agenesis of molars, might be involved in the genetic control of Mn.I2.C transposition and PDC, tooth malpositions connected here with the specific expression of posterior-field (M3) hypodontia.