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    
Abstract/OtherAbstract:
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.
Authors:
R S Lachman; G E Tiller; J M Graham; D L Rimoin
Related Documents :
24670125 - Current knowledge and impressions of speech-language pathologists of the swallow of per...
23204935 - Obesity epidemiology.
1966825 - Familial spastic paraparesis: a case of a mitochondrial disorder.
19472175 - The role of the neutral amino acid transporter b0at1 (slc6a19) in hartnup disorder and ...
11759495 - Conversion disorder: difficulties in diagnosis using dsm-iv/icd-10.
21302415 - The prevalence of common mental disorders among outpatient thai army personnel.
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    
Affiliation:
Department of Radiology, UCLA School of Medicine, Torrance 90509.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Bone Diseases, Developmental / genetics*,  metabolism
Child
Chromosome Aberrations / genetics*
Chromosome Disorders
Collagen / genetics*
Collagen Diseases / genetics*
Female
Humans
Infant
Infant, Newborn
Male
Osteochondrodysplasias / genetics
Osteogenesis Imperfecta / genetics
Grant Support
ID/Acronym/Agency:
HD22657/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
9007-34-5/Collagen

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


Previous Document:  Elevated risk of Helicobacter pylori infection in submarine crews.
Next Document:  Selective splenic arteriography for interleukin-2 administration: radiologic complications from the ...