Published 2013
| Version v1
Journal article
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
Creators
- 1. Department of Advanced Biomedical Sciences, Unit of Neuroradiology, Federico II University, Naples (Italy)
- 2. Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples (Italy)
Description
To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Brain MRI and MR angiography were performed at 1.5T. The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. 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
Availability note (English)
Available from http://dx.doi.org/10.12659/PJR.889531; Available from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908514Additional details
Identifiers
Publishing Information
- Journal Title
- Polish Journal of Radiology
- Journal Volume
- 78
- Journal Issue
- 4
- Journal Page Range
- p. 83-87
- ISSN
- 1733-134X
INIS
- Country of Publication
- Poland
- Country of Input or Organization
- International Atomic Energy Agency (IAEA)
- INIS RN
- 47031355
- Subject category
- S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- BIOMEDICAL RADIOGRAPHY; BLOOD VESSELS; CYSTS; NMR IMAGING; PHENOTYPE
- Descriptors DEC
- BODY; CARDIOVASCULAR SYSTEM; DIAGNOSTIC TECHNIQUES; MEDICINE; NUCLEAR MEDICINE; ORGANS; PATHOLOGICAL CHANGES; RADIOLOGY
Optional Information
- Copyright
- Copyright (c) Pol J Radiol, 2013
- Notes
- PMCID: PMC3908514; PMID: 24505229; PUBLISHER-ID: poljradiol-78-4-83; OAI: oai:pubmedcentral.nih.gov:3908514; This is an open access article. Unrestricted non-commercial use is permitted provided the original work is properly cited.