Browsing by Subject "Cleidocranial dysplasia"

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    Management of Two Cases of Supernumerary Teeth
    (IngentaConnect, 2020-01-01) Scully, Allison; Zhang, Hong; Kim-Berman, Hera; Benavides, Erika; Hardy, Nina C.; Hu, Jan C-C.; Pediatric Dentistry, School of Dentistry
    Supernumerary teeth are commonly observed as an isolated developmental anomaly. While familial tendency of supernumerary teeth has been documented, its genetic causality has not yet been determined. This communication presents two cases with supernumerary teeth and the process leading to the diagnosis and determination of their underlying conditions. Cases were evaluated and family histories reviewed. Genetic counseling was recommended for the probands and followed by genetic testing of selected family members. Results The proband of family 1, who has multiple supernumerary teeth, was determined to have a RUNX2 missense mutation (c.379C>T, p.Pro127Ser) and diagnosed with cleidocranial dysplasia. The proband of family 2 who has a premolar region supernumerary tooth and was reported to have no bone defects also presented with a RUNX2 missense mutation (c.1381G>C, p.Gly461Arg). Conclusion When patients present with multiple supernumerary teeth, a recommendation and guidance to genetic counseling and testing may facilitate accurate diagnosis and management.