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Fragile X-syndrome: literature review and report of two cases

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Fragile X-syndrome: literature review and report of two cases

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dc.contributor.author Ridaura Ruíz,Lourdes es
dc.contributor.author Quinteros Borgarello,Milva es
dc.contributor.author Berini Aytés,Leonardo es
dc.contributor.author Gay-Escoda,Cosme es
dc.date.accessioned 2023-06-22T12:12:41Z
dc.date.available 2023-06-22T12:12:41Z
dc.date.issued 2009 es
dc.identifier.citation Ridaura-Ruiz L, Quinteros-Borgarello M, Berini-Aytés L, Gay-Escoda C. Fragile X-syndrome: Literature review and report of two cases. Med Oral Patol Oral Cir Bucal. 2009 Sep 1;14(9):e434-e439. es
dc.identifier.uri https://hdl.handle.net/10550/88511
dc.description.abstract 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. es
dc.title Fragile X-syndrome: literature review and report of two cases es
dc.type journal article es_ES
dc.subject.unesco UNESCO:CIENCIAS MÉDICAS es
dc.type.hasVersion VoR es_ES
dc.identifier.url http://www.medicinaoral.com/medoralfree01/v14i9/medoralv14i9p434.pdf

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