Document Detail

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
MedLine Citation:
PMID:  1563395     Owner:  NLM     Status:  MEDLINE    
This article reviews the newly described biochemical (type I and II collagen) abnormalities and specific gene defects in the skeletal dysplasias. The model of the collagen molecule is described and how collagen is processed from procollagen, where and how abnormalities occur, and the types of abnormalities produced (quantitative and qualitative). The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type II collagen disorders--achondrogenesis type II, hypochondrogenesis and spondyloepiphyseal dysplasia congenita are discussed. Finally, using case presentations, the practical approach to these disorders is shown. The importance of these investigations and the subsequent reevaluation of the clinical and radiological findings of specifically delineated skeletal dysplasias are discussed.
R S Lachman; G E Tiller; J M Graham; D L Rimoin
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  European journal of radiology     Volume:  14     ISSN:  0720-048X     ISO Abbreviation:  Eur J Radiol     Publication Date:    1992 Jan-Feb
Date Detail:
Created Date:  1992-05-15     Completed Date:  1992-05-15     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8106411     Medline TA:  Eur J Radiol     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  1-10     Citation Subset:  IM    
Department of Radiology, UCLA School of Medicine, Torrance 90509.
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MeSH Terms
Bone Diseases, Developmental / genetics*,  metabolism
Chromosome Aberrations / genetics*
Chromosome Disorders
Collagen / genetics*
Collagen Diseases / genetics*
Infant, Newborn
Osteochondrodysplasias / genetics
Osteogenesis Imperfecta / genetics
Grant Support
Reg. No./Substance:

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