ABSTRACT
49, XXXXY syndrome is the most severe and rare form of Klinefelter syndrome. The number of cases of oral and dental findings with this syndrome is very little. The aims of our case report are to present oral and dental findings of the syndrome about which we have limited knowledge, to support other case reports, and to evaluate the relationship between this syndrome in which hypodontia is seen and the MSX1gene that is associated with hypodontia. The clinical and radiographical examination of a 11-year-old patient who was taken to the practitioner for his retarded development at the age of 1 and diagnosed with 49, XXXXY syndrome by chromosome analysis and had characteristics of this syndrome, were done. Congenital missing of permanent teeth, hypertaurodont primary and permanent teeth, delayed tooth development and mandibular prognatizm were observed in the examination. Whether there were any mutations in the MSX1 gene was researched, and the association with this syndrome was evaluated.
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