Document Detail


Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.
MedLine Citation:
PMID:  8862626     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from animal studies demonstrates autosomal recessive inheritance and provides a possible molecular basis for congenital vocal cord paralysis.
Authors:
R Koppel; S Friedman; S Fallet
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  64     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Aug 
Date Detail:
Created Date:  1996-12-27     Completed Date:  1996-12-27     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  485-7     Citation Subset:  IM    
Affiliation:
Division of Neonatal-Perinatal Medicine, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, New York 11040, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Consanguinity
Female
Genes, Recessive / genetics*
Humans
Infant, Newborn
Male
Pedigree
Vocal Cord Paralysis / congenital,  genetics*

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


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