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

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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Bibliographic Details
Main Authors: Emília Katiane Embiruçu Leão, Marcília Martyn Lima, Otacílio de Oliveira Maia Júnior, Juliana Parizotto, Fernando Kok
Format: Article
Language:English
Published: Thieme Revinter Publicações 2010-04-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
síndrome de Joubert
sinal do dente molar
malformação de cerebelo
Joubert syndrome
molar tooth sign
cerebellar malformation
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200023
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