Document Detail


Consideration of connective tissue dysfunction in the fragile X syndrome.
MedLine Citation:
PMID:  6711590     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Eleven cytogenetically documented patients with the fragile X syndrome were evaluated for hyperextensibility of the finger joints and the presence of other manifestations of connective tissue dysfunction. All of the patients had hyperextensibility of several finger joints and many had features such as flat feet, highly arched palate and the ability to voluntarily dislocate finger joints. These traits, particularly hyperextensibility of the joints, are a useful aid in the clinical diagnosis of the fragile X syndrome.
Authors:
R J Hagerman; K Van Housen; A C Smith; L McGavran
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  17     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1984 Jan 
Date Detail:
Created Date:  1984-05-11     Completed Date:  1984-05-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  111-21     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Child, Preschool
Connective Tissue / physiopathology*
Finger Joint / physiopathology*
Flatfoot / congenital
Fragile X Syndrome / diagnosis,  physiopathology*
Humans
Male
Movement
Palate / abnormalities
Sex Chromosome Aberrations / physiopathology*

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


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