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Consideration of connective tissue dysfunction in the fragile X syndrome

 

作者: Randi J. Hagerman,   Karen Van Housen,   Ann C. M. Smith,   Loris McGavran,   John M. Opitz,  

 

期刊: American Journal of Medical Genetics  （WILEY Available online 1984）
卷期: Volume 17, issue 1  

页码: 111-121

 

ISSN:0148-7299

 

年代: 1984

 

DOI:10.1002/ajmg.1320170106

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: X‐linked mental retardation;fragile‐X;physical features;hyperextensibility of joints;connective tissue abnormality

 

数据来源: WILEY

 

摘要:

AbstractEleven 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.

 

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