Document Detail

A second family with blepharo-naso-facial syndrome.
MedLine Citation:
PMID:  12072799     Owner:  NLM     Status:  MEDLINE    
We report a mother and son with expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. The only other family known to exhibit this constellation of features was reported by Pashayan and colleagues 23 years ago [ Pashayan et al. (1973) Am J Dis Child 125:389--393]. The similarity between these two families and a kindred described by Sommer, in which a PAX3 mutation has been defined, suggests that a developmental gene abnormality might be the cause of the blepharo-naso-facial syndrome. To date, studies of PAX3 have failed to reveal a mutation.
Judith E Allanson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-06-19     Completed Date:  2002-12-04     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  191-4     Citation Subset:  IM    
Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
DNA-Binding Proteins / genetics
Eyelids / abnormalities*
Face / abnormalities*
Nose / abnormalities*
Paired Box Transcription Factors
Transcription Factors*
Reg. No./Substance:
0/DNA-Binding Proteins; 0/PAX3 protein, human; 0/Paired Box Transcription Factors; 0/Transcription Factors; 138016-91-8/Pax3 protein, mouse

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

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