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

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.

SUBMITTER: D'Amico A 

PROVIDER: S-EPMC3908514 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature