Otodental syndrome: a case report and genetic considerations

A 5-year-old boy presented with otodental syndrome. His maxillary and mandibular incisors were within normal limits. The premolar/molar areas in all quadrants were occupied by markedly macrodontic teeth showing globular shape. The canines had a similar rounded shape. Two canines and 1 of the other abnormal teeth demonstrated areas of yellow hypoplastic enamel. Radiographs revealed that some of the abnormal teeth had bifurcated pulp chambers and pulp stones. Premolar tooth germs were absent. Audiometry demonstrated that the child had a marked bilateral sensorineural hearing loss for frequencies above 1000 Hz. No other members of the immediate family were clinically affected. The parents of the child were not aware of any similarly affected relatives. Suggestions with respect to possible genetic mechanisms and gene participation in the etiology of this syndrome are offered.