| Fragile X-syndrome: literature review and report of two cases. | |
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MedLine Citation:
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PMID: 19718005 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Lourdes Ridaura-Ruiz; Milva Quinteros-Borgarello; Leonardo Berini-Aytés; Cosme Gay-Escoda |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2009-09-01 |
Journal Detail:
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Title: Medicina oral, patología oral y cirugía bucal Volume: 14 ISSN: 1698-6946 ISO Abbreviation: Med Oral Patol Oral Cir Bucal Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-08-31 Completed Date: 2009-11-30 Revised Date: 2009-12-11 |
Medline Journal Info:
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Nlm Unique ID: 101231694 Medline TA: Med Oral Patol Oral Cir Bucal Country: Spain |
Other Details:
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Languages: eng Pagination: e434-9 Citation Subset: D; IM |
Affiliation:
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University of Barcelona Dental School, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Fragile X Syndrome / diagnosis* Humans Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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