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Adams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a family

2013
journal article
article
10.12659/PJR.889531
Journal
Polish Journal of Radiology
15
Author
D'Amico Alessandra

Melis Daniela

D'Arco Felice

Di Paolo Nilde

Carotenuto Barbara

D'Anna Gennaro

Russo Carmela

Boemio Pasquale

Brunetti Arturo
Volume
78
Issue
4
Pages
83-87
ISSN
1733-134X
eISSN
1899-0967
Keywords in English

Adams Oliver syndrome

cerebellar cysts

cerebellar cortical dysplasia

MRI

Remarks
Bibliogr. s. 86-87
Language
English
Container language
English
Abstract in English

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.

Scopus© citations
4
WoS citations
4
cris.lastimport.scopus2024-04-24T04:43:46Z
cris.lastimport.wos2024-04-09T18:04:50Z
dc.abstract.enBackground: 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.pl
dc.contributor.authorD'Amico, Alessandrapl
dc.contributor.authorMelis, Danielapl
dc.contributor.authorD'Arco, Felicepl
dc.contributor.authorDi Paolo, Nildepl
dc.contributor.authorCarotenuto, Barbarapl
dc.contributor.authorD'Anna, Gennaropl
dc.contributor.authorRusso, Carmelapl
dc.contributor.authorBoemio, Pasqualepl
dc.contributor.authorBrunetti, Arturopl
dc.date.accessioned2017-09-05T11:56:15Z
dc.date.available2017-09-05T11:56:15Z
dc.date.issued2013pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.additionalBibliogr. s. 86-87pl
dc.description.number4pl
dc.description.physical83-87pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume78pl
dc.identifier.doi10.12659/PJR.889531pl
dc.identifier.eissn1899-0967pl
dc.identifier.issn1733-134Xpl
dc.identifier.urihttp://ruj.uj.edu.pl/xmlui/handle/item/43851
dc.languageengpl
dc.language.containerengpl
dc.rightsUdzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska*
dc.rights.licenceCC-BY-NC-ND
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode*
dc.share.typeotwarte czasopismo
dc.subject.enAdams Oliver syndromepl
dc.subject.encerebellar cystspl
dc.subject.encerebellar cortical dysplasiapl
dc.subject.enMRIpl
dc.subtypeArticlepl
dc.titleAdams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a familypl
dc.title.journalPolish Journal of Radiologypl
dc.typeJournalArticlepl
dspace.entity.typePublication
Affiliations
No affiliation
D'Amico, Alessandra
Melis, Daniela
D'Arco, Felice
Di Paolo, Nilde
Carotenuto, Barbara
D'Anna, Gennaro
Russo, Carmela
Boemio, Pasquale
Brunetti, Arturo

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Except as otherwise noted, this item is licensed under the Attribution-NonCommercial-NoDerivatives licence 3.0

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2013, Vol. 78
Medical sciences