Adams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a family
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dc.type
JournalArticle
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dc.description.physical
83-87
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dc.description.additional
Bibliogr. s. 86-87
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dc.abstract.en
Background: To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Material/Methods: Brain MRI and MR angiography were performed at 1.5T. Results: The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. Conclusions: Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS.
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dc.subject.en
Adams Oliver syndrome
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dc.subject.en
cerebellar cysts
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dc.subject.en
cerebellar cortical dysplasia
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dc.subject.en
MRI
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dc.description.volume
78
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dc.description.number
4
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dc.identifier.doi
10.12659/PJR.889531
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dc.identifier.eissn
1899-0967
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dc.title.journal
Polish Journal of Radiology
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dc.language.container
eng
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dc.subtype
Article
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dc.rights.original
CC-BY-NC-ND; otwarte czasopismo; ostateczna wersja wydawcy; w momencie opublikowania; 0;
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