The spectrum of sleep disordered breathing in Joubert Syndrome
•Joubert Syndrome is characterized by hypotonia, cerebellar ataxia, intellectual disability and coordination difficulties.•Diagnosis is confirmed by magnetic resonance imaging and identification of molar tooth sign.•Abnormal breathing pattern in Joubert Syndrome is a reflection of brain stem involve...
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Veröffentlicht in: | Sleep medicine 2018-12, Vol.52, p.177-179 |
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Hauptverfasser: | , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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Zusammenfassung: | •Joubert Syndrome is characterized by hypotonia, cerebellar ataxia, intellectual disability and coordination difficulties.•Diagnosis is confirmed by magnetic resonance imaging and identification of molar tooth sign.•Abnormal breathing pattern in Joubert Syndrome is a reflection of brain stem involvement.•Sleep disordered breathing is common in this syndrome and there is paucity of symptoms such as apnea.•Polysomnogram is routinely performed in these patients. |
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ISSN: | 1389-9457 1878-5506 |
DOI: | 10.1016/j.sleep.2018.08.016 |