Abstract
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.