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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908514 | PMC |
| http://dx.doi.org/10.12659/PJR.889531 | DOI Listing |
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