Document Detail


Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
MedLine Citation:
PMID:  1415329     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on 2 unrelated patients with microcephaly, lymphedema, and chorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity.
Authors:
M Feingold; L Bartoshesky
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  43     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1992 Aug 
Date Detail:
Created Date:  1992-11-13     Completed Date:  1992-11-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1030-1     Citation Subset:  IM    
Affiliation:
Boston University School of Medicine, Massachusetts.
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MeSH Terms
Descriptor/Qualifier:
Child
Choroid / abnormalities
Eye Abnormalities / genetics*
Humans
Lymphedema / genetics*
Male
Mental Retardation / genetics
Microcephaly / genetics*
Retina / abnormalities
Syndrome

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


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