Document Detail

Retrospective diagnosis of chondrodysplasia punctata.
MedLine Citation:
PMID:  16499729     Owner:  NLM     Status:  MEDLINE    
The diagnosis of punctate epiphyseal dysplasia (PED) after disappearance of puncta is problematical. In some instances, however, the phenotypic and radiographic characteristics may persist and permit a retrospective diagnosis of PED in persons with unclassified bone dysplasia or bone changes of unknown origin. We report a boy aged 8 years who presented with unusual bony abnormalities that were consistent with a diagnosis of PED.
K Kozlowski; D Basel; P Beighton
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Australasian radiology     Volume:  50     ISSN:  0004-8461     ISO Abbreviation:  Australas Radiol     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-02-27     Completed Date:  2006-05-04     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0047441     Medline TA:  Australas Radiol     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  55-8     Citation Subset:  IM    
Department of Medical Imaging, New Children's Hospital, Sydney, New South Wales, Australia.
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MeSH Terms
Chondrodysplasia Punctata / radiography*
Diagnosis, Differential

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