Document Detail


The Gardner syndrome. Significance of ocular features.
MedLine Citation:
PMID:  6493700     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gardner syndrome is a dominantly inherited familial cancer syndrome characterized by intestinal polyposis, bony hamartomata, and various soft tissue tumors. The risk of malignancy during adult life is essentially 100%, but as yet no phenotypic marker nor biochemical or serological linkage have been useful to identify the presence of the gene in early life. We studied three families in which multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium are related uniquely to other phenotypic features of the Gardner gene. This readily identifiable characteristic may be useful to identify early in life individuals at risk for malignancy. We also suggest that the Gardner syndrome may be genetically heterogeneous.
Authors:
R A Lewis; W E Crowder; L A Eierman; R L Nussbaum; R E Ferrell
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Ophthalmology     Volume:  91     ISSN:  0161-6420     ISO Abbreviation:  Ophthalmology     Publication Date:  1984 Aug 
Date Detail:
Created Date:  1984-11-28     Completed Date:  1984-11-28     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7802443     Medline TA:  Ophthalmology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  916-25     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Child, Preschool
Eye Diseases / etiology*,  genetics
Female
Fundus Oculi
Gardner Syndrome / complications*,  genetics,  pathology
Humans
Hypertrophy
Linkage (Genetics)
Male
Middle Aged
Pedigree
Phenotype
Pigment Epithelium of Eye / pathology*
Risk
Grant Support
ID/Acronym/Agency:
CA-29614/CA/NCI NIH HHS; M01RR-0188/RR/NCRR NIH HHS; RR-00350/RR/NCRR NIH HHS

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


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