Joubert syndrome: large clinical variability and a unique neuroimaging aspect.

نویسندگان

  • Emília Katiane Embiruçu Leão
  • Marcília Martyn Lima
  • Otacílio de Oliveira Maia
  • Juliana Parizotto
  • Fernando Kok
چکیده

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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Speech difficulties in Joubert syndrome

Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...

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عنوان ژورنال:
  • Arquivos de neuro-psiquiatria

دوره 68 2  شماره 

صفحات  -

تاریخ انتشار 2010