Document Detail


Fragile X (Martin Bell) syndrome.
MedLine Citation:
PMID:  12050886     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fragile X syndrome is a neurodevelopmental disorder that results from a single gene mutation on the X chromosome. It is the most common genetic cause of learning disability, though many patients remain unrecognized. Fragile X syndrome is characterized phenotypically mainly by a long coarse face, prominent ears and macro-orchidism. Affected individuals are also mentally challenged and may have mitral valve prolapse, and seizures. A case of Fragile X syndrome is reported, with oral findings and potential management difficulties in oral care.
Authors:
Crispian Scully
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Dental update     Volume:  29     ISSN:  0305-5000     ISO Abbreviation:  Dent Update     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-06-07     Completed Date:  2002-09-03     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7805969     Medline TA:  Dent Update     Country:  England    
Other Details:
Languages:  eng     Pagination:  196-8     Citation Subset:  D    
Affiliation:
International Centres for Excellence in Denstistry and Eastman Dental Institute for Oral Health Care Sciences, University College London.
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MeSH Terms
Descriptor/Qualifier:
Adult
Ear, External / abnormalities
Face
Fragile X Syndrome / diagnosis*,  genetics,  pathology
Gingivitis / pathology
Humans
Learning Disorders / diagnosis
Lip / abnormalities
Male
Mental Retardation / pathology
Mitral Valve Prolapse / pathology
Phenotype
Testis / abnormalities
Tooth Attrition / pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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