| Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son. | |
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MedLine Citation:
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PMID: 9429147 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J L Tolmie; R Day; B Fredericks; P Galea; A W Moffett |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 34 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1997 Dec |
Date Detail:
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Created Date: 1998-02-04 Completed Date: 1998-02-04 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1018-20 Citation Subset: IM |
Affiliation:
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Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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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