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Joubert Sendromunun Nöroradyolojik Açıdan Değerlendirilmesi: Olgu Sunumu

Neuroradiology Evaluation of Joubert's Syndrome: Case Report

Journal Name:

  • Fırat Tıp Dergisi

Publication Year:

  • 2005

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathology 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, Fırat Üniversitesi, Tıp Fakültesi
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Abstract (Original Language): 
Joubert sendromu anormal solunum düzeni ve göz hareketleri, hipotoni, ataksi, serebellum ve beyin sapının nöropatolojik anomalileri ile birlikte gelişimsel geriliğin olduğu, nadir görülen otozomal resesif bir sendromdur. Pitozis ve hipotonisite yakınması ile başvuran bir Joubert sendromu olgusu sunularak, literatür bilgileri ışığında, sendromun klinik heterojenitesi ve radyolojik bulgularını sunmayı amaçladık. ©2005, Fırat Üniversitesi, Tıp Fakültesi
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  • 3
136-138
  • Turkish

REFERENCES

References: 

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