Document Detail


Fragile X-syndrome: literature review and report of two cases.
MedLine Citation:
PMID:  19718005     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Lourdes Ridaura-Ruiz; Milva Quinteros-Borgarello; Leonardo Berini-Aytés; Cosme Gay-Escoda
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2009-09-01
Journal Detail:
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:
Created Date:  2009-08-31     Completed Date:  2009-11-30     Revised Date:  2009-12-11    
Medline Journal Info:
Nlm Unique ID:  101231694     Medline TA:  Med Oral Patol Oral Cir Bucal     Country:  Spain    
Other Details:
Languages:  eng     Pagination:  e434-9     Citation Subset:  D; IM    
Affiliation:
University of Barcelona Dental School, Spain.
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MeSH Terms
Descriptor/Qualifier:
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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