Document Detail


A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.
MedLine Citation:
PMID:  1623624     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.
Authors:
A Guala; V Germinetti; F Sebastiani; M C Silengo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  41     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1992 Jun 
Date Detail:
Created Date:  1992-08-07     Completed Date:  1992-08-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  293-5     Citation Subset:  IM    
Affiliation:
Istituto di Discipline Pediatriche Universitá di Torino, Italy.
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MeSH Terms
Descriptor/Qualifier:
Cataract / genetics*
Child, Preschool
Female
Genes, Dominant
Hearing Loss, Sensorineural / genetics*
Humans
Pedigree
Syndrome

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