{Reference Type}: Case Reports
{Title}: Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.
{Author}: D'Amico A;Melis D;D'Arco F;Di Paolo N;Carotenuto B;D'Anna G;Russo C;Boemio P;Brunetti A;
{Journal}: Pol J Radiol
{Volume}: 78
{Issue}: 4
{Year}: Oct 2013
暂无{DOI}: 10.12659/PJR.889531
{Abstract}: <B>BACKGROUND: </B>To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300).<BR><B>METHODS: </B>Brain MRI and MR angiography were performed at 1.5T.<BR><B>RESULTS: </B>The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts.<BR><B>CONCLUSIONS: </B>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.