| Joubert syndrome: large clinical variability and a unique neuroimaging aspect. | |
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MedLine Citation:
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PMID: 20464299 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. |
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Authors:
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Emília Katiane Embiruçu Leão; Marcília Martyn Lima; Otacílio de Oliveira Maia; Juliana Parizotto; Fernando Kok |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Arquivos de neuro-psiquiatria Volume: 68 ISSN: 1678-4227 ISO Abbreviation: Arq Neuropsiquiatr Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-05-13 Completed Date: 2010-07-26 Revised Date: 2010-07-27 |
Medline Journal Info:
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Nlm Unique ID: 0125444 Medline TA: Arq Neuropsiquiatr Country: Brazil |
Other Details:
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Languages: eng Pagination: 273-6 Citation Subset: IM |
Affiliation:
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Department of Child Neurology, Clinical Hospital, University of São Paulo, São Paulo, SP, Brazil. ekeleao@yahoo.com.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Cerebellum / abnormalities*, pathology Child Child, Preschool Female Humans Kidney Diseases / congenital, genetics, pathology* Magnetic Resonance Imaging Male Mental Retardation* Ocular Motility Disorders / congenital, genetics, pathology* Syndrome |
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