Joubert Sendromunun Nöroradyolojik Açıdan Değerlendirilmesi: Olgu Sunumu

Hanefi YILDIRIM; Ayşe MURAT; Mustafa AYDIN; Derya BENZER

Neuroradiology Evaluation of Joubert's Syndrome: Case Report

Journal Name:

Fırat Tıp Dergisi

Publication Year:

2005

Key Words:

Keywords (Original Language):

Author Name	University of Author	Faculty of Author
Hanefi YILDIRIM	Fırat Üniversitesi	Tıp Fakültesi
Ayşe MURAT	Fırat Üniversitesi	Tıp Fakültesi
Mustafa AYDIN	Fırat Üniversitesi	Tıp Fakültesi
Derya BENZER	Fırat Üniversitesi	Tıp Fakültesi

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

FULL TEXT (PDF):

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REFERENCES

References:

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Joubert Sendromunun Nöroradyolojik Açıdan Değerlendirilmesi: Olgu Sunumu

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