[Joubert's syndrome: report of 12 cases].

@article{Barreirinho2001JoubertsSR,
  title={[Joubert's syndrome: report of 12 cases].},
  author={M S Barreirinho and Jo{\~a}o B Teixeira and Nuno Maria Canto Moreira and S B Bastos and Silvina Goncalvez and M C Barbot},
  journal={Revista de neurologia},
  year={2001},
  volume={32 9},
  pages={812-7}
}
INTRODUCTION Joubert syndrome is a rare autosomal recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea-apnea during first months of life. The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fosse, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the… CONTINUE READING

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