Joubert syndrome: large clinical variability and a unique neuroimaging aspect Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

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...

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Bibliografische gegevens

Hoofdauteurs:	Emília Katiane Embiruçu Leão, Marcília Martyn Lima, Otacílio de Oliveira Maia Júnior, Juliana Parizotto, Fernando Kok
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Thieme Revinter Publicações 2010-04-01
Reeks:	Arquivos de Neuro-Psiquiatria
Onderwerpen:	síndrome de Joubert sinal do dente molar malformação de cerebelo Joubert syndrome molar tooth sign cerebellar malformation
Online toegang:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200023
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