Document Detail


Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review.
MedLine Citation:
PMID:  2642772     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hereditary oncycho-osteodysplasia is a well-defined clinical entity consisting of four characteristics: (1) complete or partial absence of finger and thumb nails typically more severe on the radial side of the hand; (2) bony dysplasia about the knee consisting of patellar and lateral femoral condylar hypoplasia; (3) bony dysplasia about the elbow consisting of hypoplasia of the capitellum and radial head; and (4) iliac horns. The hereditary pattern is autosomal dominant with complete penetrance and variable expressivity. Other associated dysplasias have been reported, but there are only six articles reporting shoulder dysplasia and some of these are of questionable validity. This article reports the clinical and roentgenographic findings of a patient with an obvious deformity of the scapula consisting of a small acromion in both the anteroposterior (AP) and lateral planes. The acromion was deformed and slanted upwards at the lateral border. A slightly attenuated glenoid pointed laterally or slightly inferiorly, giving a humeral acromial interval of 2.5 cm.
Authors:
R L Loomer
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical orthopaedics and related research     Volume:  -     ISSN:  0009-921X     ISO Abbreviation:  Clin. Orthop. Relat. Res.     Publication Date:  1989 Jan 
Date Detail:
Created Date:  1989-02-14     Completed Date:  1989-02-14     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0075674     Medline TA:  Clin Orthop Relat Res     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  112-6     Citation Subset:  AIM; IM    
Affiliation:
Department of Orthopedics, University of British Columbia, Canada.
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MeSH Terms
Descriptor/Qualifier:
Acromion / abnormalities*
Adult
Female
Humans
Nail-Patella Syndrome / complications*,  genetics
Pedigree
Scapula / abnormalities*
Shoulder Joint / abnormalities*

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


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