Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Tots els drets reservats
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/54591
Fragile X-syndrome: literature review and report of two cases
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present two male patients aged 17 and 10 years, treated in our Service due to severe gingivitis. Both showed the typical facial and dental characteristics of the syndrome. In addition, we detected the presence of root anomalies such as taurodontism and root bifurcation, which had not been associated with fragile X-syndrome in the literature. In some cases these root malformations have been associated with other sex-linked congenital syndromes, though in none of the studies published in the literature have they been related with fragile X-syndrome. This syndrome is relevant due to its high prevalence, the presentation of certain oral and facial characteristics that can facilitate the diagnosis, and the few cases published to date
Matèries (anglès)
Citació
Citació
RIDAURA RUIZ, Lourdes, QUINTEROS BORGARELLO, Milva, BERINI AYTÉS, Leonardo, GAY ESCODA, Cosme. Fragile X-syndrome: literature review and report of two cases. _Medicina Oral_. Patología Oral y Cirugia Bucal. Vol. 2009, núm. 14, pàgs. 9. [consulta: 9 de gener de 2026]. ISSN: 1698-4447. [Disponible a: https://hdl.handle.net/2445/54591]