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
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.
Melis D;
2014
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 AOSFile in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
