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

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...

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Autores principales: D’Amico, Alessandra, Melis, Daniela, D’Arco, Felice, Di Paolo, Nilde, Carotenuto, Barbara, D’Anna, Gennaro, Russo, Carmela, Boemio, Pasquale, Brunetti, Arturo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908514/
https://www.ncbi.nlm.nih.gov/pubmed/24505229
http://dx.doi.org/10.12659/PJR.889531
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author D’Amico, Alessandra
Melis, Daniela
D’Arco, Felice
Di Paolo, Nilde
Carotenuto, Barbara
D’Anna, Gennaro
Russo, Carmela
Boemio, Pasquale
Brunetti, Arturo
author_facet D’Amico, Alessandra
Melis, Daniela
D’Arco, Felice
Di Paolo, Nilde
Carotenuto, Barbara
D’Anna, Gennaro
Russo, Carmela
Boemio, Pasquale
Brunetti, Arturo
author_sort D’Amico, Alessandra
collection PubMed
description 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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spelling pubmed-39085142014-02-06 Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family D’Amico, Alessandra Melis, Daniela D’Arco, Felice Di Paolo, Nilde Carotenuto, Barbara D’Anna, Gennaro Russo, Carmela Boemio, Pasquale Brunetti, Arturo Pol J Radiol Case Report 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. International Scientific Literature, Inc. 2013 2013-11-19 /pmc/articles/PMC3908514/ /pubmed/24505229 http://dx.doi.org/10.12659/PJR.889531 Text en © Pol J Radiol, 2013 This is an open access article. Unrestricted non-commercial use is permitted provided the original work is properly cited.
spellingShingle Case Report
D’Amico, Alessandra
Melis, Daniela
D’Arco, Felice
Di Paolo, Nilde
Carotenuto, Barbara
D’Anna, Gennaro
Russo, Carmela
Boemio, Pasquale
Brunetti, Arturo
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
title Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
title_full Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
title_fullStr Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
title_full_unstemmed Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
title_short Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
title_sort adams oliver syndrome: description of a new phenotype with cerebellar abnormalities in a family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908514/
https://www.ncbi.nlm.nih.gov/pubmed/24505229
http://dx.doi.org/10.12659/PJR.889531
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