We report a case of a congenital tooth (supernumerary tooth) in a female infant with cleft uvula. She was referred to our department by her pediatrician because of a small swelling with a tooth-like aggregate at the lower alveolar region. We found a congenital tooth and cleft uvula at the first inspection. A dental X ray showed that the congenital tooth was a supernumerary tooth, because four tooth girms of deciduous incisor were confirmed. At 5 months after her birth, we surgically removed this tooth and granulation mass under a general anesthesia. The removed specimen consisted of a juvenile tooth and a connective tissue with inflammatory cells infiltration. Because her relatives had cleft anomaly, we analyzed the gene of IRF-6, which was reported to be a causal gene of Van der Woude syndrome, in DNA extracted from the removed tissue. However, we found no mutation in all the exon of IRF-6 gene.
