Document Detail


Familial joint instability syndrome.
MedLine Citation:
PMID:  7424974     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a family in which many persons have generalized joint laxity frequently complicated by dislocation of major joints. The condition is an autosomal dominant trait, with high penetrance. The disorder observed in this family and in others from the literature appears to be a specific syndrome that can be distinguished from other familial forms of joint laxity such as simple familial joint laxity and the Ehlers-Danlos syndromes. It has been designated the familial joint instability syndrome.
Authors:
W A Horton; D L Collins; A A DeSmet; J A Kennedy; R N Schimke
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  6     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1980  
Date Detail:
Created Date:  1980-12-16     Completed Date:  1980-12-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  221-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Connective Tissue Diseases / genetics
Diagnosis, Differential
Dislocations / genetics
Female
Genes, Dominant
Hip Dislocation, Congenital / genetics
Humans
Infant
Infant, Newborn
Joint Diseases / congenital,  genetics*
Ligaments, Articular / pathology
Male
Middle Aged
Pedigree
Syndrome

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


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