Joubert syndrome: large clinical variability and a unique neuroimaging aspect
| Autor: | Emília Katiane Embiruçu de Araújo Leão, Juliana Parizotto, Fernando Kok, Otacílio de Oliveira Maia, Marcília Martyn Lima |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty genetic structures Adolescent Hyperpnea Nystagmus Joubert syndrome Ocular Motility Disorders Neuroimaging Cerebellum Intellectual Disability medicine Humans Oculomotor apraxia Child Apnea Anatomy Syndrome medicine.disease Magnetic Resonance Imaging Hypotonia eye diseases Neurology molar tooth sign Child Preschool cerebellar malformation Female Kidney Diseases Neurology (clinical) medicine.symptom Abnormality Psychology |
| Zdroj: | Arquivos de Neuro-Psiquiatria v.68 n.2 2010 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO |
| ISSN: | 1678-4227 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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