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Title: | Fragile X-syndrome: literature review and report of two cases |
Author: | Ridaura Ruiz, Lourdes Quinteros Borgarello, Milva Berini Aytés, Leonardo Gay Escoda, Cosme |
Keywords: | Anomalies cromosòmiques Malformacions dentals Deficiència mental Malalties hereditàries Chromosome abnormalities Dental abnormalities Mental deficiency Genetic diseases |
Issue Date: | 1-Nov-2009 |
Publisher: | Medicina Oral SL |
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 |
Note: | Reproducció del document publicat a: http://www.medicinaoral.com/medoralfree01/v14i9/medoralv14i9p434.pdf Podeu consultar la versió en castellà del document a: http://hdl.handle.net/2445/145950 |
It is part of: | Medicina Oral, Patología Oral y Cirugia Bucal, 2009, vol. 14, num. 9, p. 434-439 |
URI: | http://hdl.handle.net/2445/54591 |
ISSN: | 1698-4447 |
Appears in Collections: | Articles publicats en revistes (Odontoestomatologia) |
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