Document Detail

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.
MedLine Citation:
PMID:  890106     Owner:  NLM     Status:  MEDLINE    
We have studied three patients with severe short-limbed dwarfism, only one of whom had the typical features of Grebe disease, whereas the other two had clearly distinct previously unreported skeletal dysplasias. Unlike the patients with Grebe disease, the latter two patients had involvement of the spine and particularly short humeri. The malformations of the hands and lower limbs were different in each of the three patients.
G Romeo; J Zonana; R S Lachman; J M Opitz; C I Scott; J W Spranger; D L Rimoin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Birth defects original article series     Volume:  13     ISSN:  0547-6844     ISO Abbreviation:  Birth Defects Orig. Artic. Ser.     Publication Date:  1977  
Date Detail:
Created Date:  1977-10-14     Completed Date:  1977-10-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0003403     Medline TA:  Birth Defects Orig Artic Ser     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  109-15     Citation Subset:  IM    
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MeSH Terms
Diagnosis, Differential
Dwarfism / diagnosis*,  genetics
Genes, Recessive
Limb Deformities, Congenital
Osteochondrodysplasias / diagnosis

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

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