Document Detail


Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son.
MedLine Citation:
PMID:  9429147     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a mother and son who each presented in infancy with hypotonia and global developmental delay. Subsequently, in both subjects, mild mental handicap was diagnosed in association with temporal lobe arachnoid cysts. Mendelian inheritance of this phenotype seems likely and macroscopic cerebral dysplasia in general may be underdiagnosed in people with familial, mild mental handicap.
Authors:
J L Tolmie; R Day; B Fredericks; P Galea; A W Moffett
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  34     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1997 Dec 
Date Detail:
Created Date:  1998-02-04     Completed Date:  1998-02-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1018-20     Citation Subset:  IM    
Affiliation:
Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Arachnoid Cysts / genetics*
Female
Humans
Infant, Newborn
Learning Disorders / genetics*
Male
Mental Retardation / genetics*
Comments/Corrections

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


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