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Joubert Sendromunun Nöroradyolojik Açidan Değerlendirilmesi: Olgu Sunumu

Hanefi Yıldırım, Ayşe Murat, Mustafa Aydın, Derya Benzer

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Abstract

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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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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Available abstract

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

Key concepts: Joubert syndrome, Hypotonia, Ataxia, Medicine, Ptosis, Global developmental delay, Brainstem, Pediatrics

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Joubert Sendromunun Nöroradyolojik Açidan Değerlendirilmesi: Olgu Sunumu — Research Paper | ScholarLens