Document Detail


Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli.
MedLine Citation:
PMID:  880775     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hereditary Arthro-ophthalmopathy (The Stickler Syndrome) is a relatively common dominantly inherited disorder of connective tissue. A wide range of musculoskeletal involvement occurs including marfanoid habitus, kyphosis, scoliosis, slipped epiphyses, joint laxity and degenerative arthritis. Congenital myopia and micrognathia are the most characteristic non-skeletal features. An affected family is reported who also exhibit protrusio acetabuli. It is important to recognize this syndrome for both diagnostic and therapeutic purposes.
Authors:
R K Beals
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical orthopaedics and related research     Volume:  -     ISSN:  0009-921X     ISO Abbreviation:  Clin. Orthop. Relat. Res.     Publication Date:  1977 Jun 
Date Detail:
Created Date:  1977-09-17     Completed Date:  1977-09-17     Revised Date:  2005-03-03    
Medline Journal Info:
Nlm Unique ID:  0075674     Medline TA:  Clin Orthop Relat Res     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  32-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Acetabulum / abnormalities*
Adolescent
Bone Diseases, Developmental / complications,  genetics
Female
Humans
Male
Micrognathism / complications
Middle Aged
Myopia / complications*,  genetics
Pedigree
Retinal Detachment / complications*,  genetics
Syndrome

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


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