Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.
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ABSTRACT:
SUBMITTER: D'Amico A
PROVIDER: S-EPMC3908514 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Publications
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.
D'Amico Alessandra A Melis Daniela D D'Arco Felice F Di Paolo Nilde N Carotenuto Barbara B D'Anna Gennaro G Russo Carmela C Boemio Pasquale P Brunetti Arturo A
Polish journal of radiology 20131001 4
<h4>Background</h4>To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300).<h4>Material/methods</h4>Brain MRI and MR angiography were performed at 1.5T.<h4>Results</h4>The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts.<h4>Conclusions</h4>Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a ...[more]
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