Document Detail


The skeletal dysplasias.
MedLine Citation:
PMID:  20556869     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan.
Authors:
Deborah Krakow; David L Rimoin
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  12     ISSN:  1530-0366     ISO Abbreviation:  Genet. Med.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-06-16     Completed Date:  2010-09-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  327-41     Citation Subset:  IM    
Affiliation:
Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. dkrakow@mednet.ucla.edu
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MeSH Terms
Descriptor/Qualifier:
Humans
Osteochondrodysplasias / pathology*,  surgery
Quality of Life
Grant Support
ID/Acronym/Agency:
1R01DE019567/DE/NIDCR NIH HHS; HD22657/HD/NICHD NIH HHS

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


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