Document Detail


Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: report of two sibs.
MedLine Citation:
PMID:  1271602     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three- and four-year-old brothers, ostensibly with a nonprogressive spastic quadriparesis, had retinitis pigmentosa and mental retardation. One had clinical deafness. The brothers showed little developmental progress in infancy and exhibited deterioration in childhood. Known metabolic and acquired causes were excluded. Although they have some features of several other syndromes,the condition reported here is unique.
Authors:
A M Gordon; A J Capute; B W Konigsmark
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Johns Hopkins medical journal     Volume:  138     ISSN:  0021-7263     ISO Abbreviation:  Johns Hopkins Med J     Publication Date:  1976 Apr 
Date Detail:
Created Date:  1976-08-02     Completed Date:  1976-08-02     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0072456     Medline TA:  Johns Hopkins Med J     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  142-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aging
Child, Preschool
Consanguinity
Deafness / genetics*
Diagnosis, Differential
Humans
Inbreeding
Male
Mental Retardation / genetics*
Pedigree
Quadriplegia / genetics*
Retinitis Pigmentosa / genetics*

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


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