Document Detail

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.
MedLine Citation:
PMID:  3281118     Owner:  NLM     Status:  MEDLINE    
Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature reveals a specific autosomal dominant disorder that was often over-diagnosed in the past, sometimes resulting in incorrect genetic counselling. Significant radiologic features include an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life.
R S Lachman; D L Rimoin; J Spranger
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Pediatric radiology     Volume:  18     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  1988  
Date Detail:
Created Date:  1988-05-12     Completed Date:  1988-05-12     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  93-102     Citation Subset:  IM    
Department of Radiology, UCLA School of Medicine, Torrance.
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MeSH Terms
Child, Preschool
Osteochondrodysplasias / genetics,  radiography*
Grant Support
Comment In:
Pediatr Radiol. 1989;20(1-2):136   [PMID:  2602007 ]

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