Corpus ID: 73066034

Joubert Sendromunun Nöroradyolojik Açidan Değerlendirilmesi: Olgu Sunumu

@inproceedings{Yildirim2005JoubertSN,
  title={Joubert Sendromunun N{\"o}roradyolojik Açidan Değerlendirilmesi: Olgu Sunumu},
  author={Hanefi Yildirim and Aysel Murat and M. Aydin and Derya Benzer},
  year={2005}
}
Joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem. We aimed to point out the clinical heterogenity and radiologic findings of JS. We presented a case of Joubert syndrome associated with ptosis and hypotonia.©2005, Firat Universitesi, Tip Fakultesi 

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