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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
Show more
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
Journal 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
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
cris.lastimport.wos
2024-04-09T18:04:50Z
dc.abstract.enpl
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.
dc.contributor.authorpl
D'Amico, Alessandra
dc.contributor.authorpl
Melis, Daniela
dc.contributor.authorpl
D'Arco, Felice
dc.contributor.authorpl
Di Paolo, Nilde
dc.contributor.authorpl
Carotenuto, Barbara
dc.contributor.authorpl
D'Anna, Gennaro
dc.contributor.authorpl
Russo, Carmela
dc.contributor.authorpl
Boemio, Pasquale
dc.contributor.authorpl
Brunetti, Arturo
dc.date.accessioned
2017-09-05T11:56:15Z
dc.date.available
2017-09-05T11:56:15Z
dc.date.issuedpl
2013
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.additionalpl
Bibliogr. s. 86-87
dc.description.numberpl
4
dc.description.physicalpl
83-87
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
78
dc.identifier.doipl
10.12659/PJR.889531
dc.identifier.eissnpl
1899-0967
dc.identifier.issnpl
1733-134X
dc.identifier.uri
http://ruj.uj.edu.pl/xmlui/handle/item/43851
dc.languagepl
eng
dc.language.containerpl
eng
dc.rights*
Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska
dc.rights.licence
CC-BY-NC-ND
dc.rights.uri*
http://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode
dc.share.type
otwarte czasopismo
dc.subject.enpl
Adams Oliver syndrome
dc.subject.enpl
cerebellar cysts
dc.subject.enpl
cerebellar cortical dysplasia
dc.subject.enpl
MRI
dc.subtypepl
Article
dc.titlepl
Adams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a family
dc.title.journalpl
Polish Journal of Radiology
dc.typepl
JournalArticle
dspace.entity.type
Publication
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 : Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska

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2013, Vol. 78
Medical sciences