Document Detail


The Stickler syndrome (hereditary arthro-ophthalmopathy).
MedLine Citation:
PMID:  409578     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.
Authors:
B Say; J Berry; N Barber
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  12     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1977 Sep 
Date Detail:
Created Date:  1977-11-30     Completed Date:  1977-11-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  179-82     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Child Development
Child, Preschool
Cleft Palate / genetics
Eye Abnormalities*
Face / abnormalities*
Female
Humans
Infant
Joints / abnormalities*
Male
Myopia / genetics
Pierre Robin Syndrome / genetics
Pregnancy
Pregnancy Complications

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


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