Dental evaluation of Kabuki syndrome patients.
Kabuki syndrome is a genetic disorder of unknown etiology characterized by mental retardation, growth deficiency, and peculiar face (i.e., long palpebral fissures, eversion of the lateral third of the lower eyelids, prominent ears, and broad and depressed nasal tip). Oral manifestations commonly observed in Kabuki syndrome may comprise cleft lip/palate, bifid tongue and uvula, malocclusion, and dental abnormalities. We evaluated the dental findings of eight patients with Kabuki syndrome. One presented cleft palate; three presented caries; and seven had missing teeth, with the upper lateral incisors and inferior central incisors being the most commonly absent. All missing teeth were permanent, and there was no alteration of dental chronology or morphology. Because most patients had mixed dentition, the presence or absence of primary teeth was assessed through the parents' reports. One patient presented an absent upper canine, which had not been reported previously in the literature. Dental findings may be helpful for clinical diagnosis, or they may be an additional finding to substantiate the diagnosis of Kabuki syndrome in children with mild phenotype.
Teixeira
Camila Santos
CS
Genetics Unit, Instituto da Criança, University of São Paulo, 05403-900 São Paulo-SP, Brazil. ca_steixeira@yahoo.com
Silva
Claudia Renata Leite
CR
Honjo
Rachel Sayuri
RS
Bertola
Débora Romeo
DR
Albano
Lílian Maria José
LM
Kim
Chong Ae
CA
D000015:Abnormalities, Multiple; D000293:Adolescent; D000848:Anodontia / Q000175:diagnosis; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D003731:Dental Caries / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011862:Radiography, Panoramic; D013577:Syndrome