"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

@article{Maria1997JoubertSR,
  title={"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.},
  author={B. L. Maria and Kim Hoang and Ronald J. Tusa and Anthony A. Mancuso and Lamia Hamed and Ronald G. Quisling and Michiel ten Hove and Eileen B. Fennell and Margaret Booth-Jones and Debbie Ringdahl and Anthony T. Yachnis and G B Creel and B Frerking},
  journal={Journal of child neurology},
  year={1997},
  volume={12 7},
  pages={423-30}
}
Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermian dysgenesis. We studied 15 patients with the diagnosis of Joubert syndrome to (1) more fully define the syndrome's clinical features, and (2) correlate the clinical features with magnetic resonance imaging (MRI) findings. Eight of 15 patients had a history of episodic hyperpnea and apnea. All patients had developmental delay and hypotonia… CONTINUE READING
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