Document Detail


A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome.
MedLine Citation:
PMID:  19449001     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned epiphyses on hand radiographs.
Authors:
Manjiri M Didolkar; Emily N Vinson; Ana M Gaca
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-05-16
Journal Detail:
Title:  Skeletal radiology     Volume:  38     ISSN:  1432-2161     ISO Abbreviation:  Skeletal Radiol.     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-08-27     Completed Date:  2009-11-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7701953     Medline TA:  Skeletal Radiol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1011-4     Citation Subset:  IM    
Affiliation:
Department of Radiology, Duke University Medical Center, Durham, NC 27710, USA. manjiri.didolkar@duke.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  genetics
Arthralgia / genetics,  radiography*
Child
Female
Foot Bones / abnormalities*,  radiography*
Hand Bones / abnormalities*,  radiography*
Hearing Loss, Sensorineural / diagnosis*
Humans
Receptor, Fibroblast Growth Factor, Type 3 / genetics
Syndrome
Chemical
Reg. No./Substance:
EC 2.7.1.112/FGFR3 protein, human; EC 2.7.1.112/Receptor, Fibroblast Growth Factor, Type 3

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


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