Journals / Türk Pediatri Arşivi / 1994 / Cilt: 29 Sayı: 3

Joubert Syndrome: A Case Report

Joubert Sendromu

Pages
1–1
Publication Date
1994-09-01
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Joubert syndrome is associated with hypotonia developmental delay cerebellar vermis hypoplasia abnormal breathing and abnormal eye movements Cases should be classified into two groups: those with retinal distrophy and those without We determined bilateral pallor optic disc without retinal dystrophy in our case that has psychomotor retardation hypotonia vermis hypoplasia and abnormal eye movements Key words: Joubert Syndrome Vermis Hypoplasia Abnormal Eye Movements

📌 3 Key Takeaways

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Objective & Hypothesis:Joubert syndrome is associated with hypotonia developmental delay cerebellar vermis hypoplasia abnormal breathing and abnormal eye movements Cases should be classified into two groups: those with retinal distrophy and those without We determined bilateral pallor optic disc without retinal dystrophy in our case that has psychomotor retardation hypotonia vermis hypoplasia and abnormal eye movements Key words: Joubert Syndrome Vermis Hypoplasia Abnormal Eye Movements
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Key Findings & Data:Joubert syndrome is associated with hypotonia developmental delay cerebellar vermis hypoplasia abnormal breathing and abnormal eye movements Cases should be classified into two groups: those with retinal distrophy and those without We determined bilateral pallor optic disc without retinal dystrophy in our case that has psychomotor retardation hypotonia vermis hypoplasia and abnormal eye movements Key words: Joubert Syndrome Vermis Hypoplasia Abnormal Eye Movements
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Conclusion & Impact:Joubert syndrome is associated with hypotonia developmental delay cerebellar vermis hypoplasia abnormal breathing and abnormal eye movements Cases should be classified into two groups: those with retinal distrophy and those without We determined bilateral pallor optic disc without retinal dystrophy in our case that has psychomotor retardation hypotonia vermis hypoplasia and abnormal eye movements Key words: Joubert Syndrome Vermis Hypoplasia Abnormal Eye Movements
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Joubert syndrome is associated with hypotonia developmental delay cerebellar vermis hypoplasia abnormal breathing and abnormal eye movements Cases should be classified into two groups: those with retinal distrophy and those without We determined bilateral pallor optic disc without retinal dystrophy in our case that has psychomotor retardation hypotonia vermis hypoplasia and abnormal eye movements Key words: Joubert Syndrome Vermis Hypoplasia Abnormal Eye Movements

Özet

Joubert sendromu hipotoni gelişine geriliği vermiş hipoplazisi anormal solunum ve göz hareketlerinin gözlendiği bir tablodur Olgular retinal distrofinin varlığına göre iki gruba ayrılır Psikomotor retardasyon hipotoni vermiş hipoplazisi ve anormal göz hareketleri olan olgumuzda retinal distrofi olmaksızın iki taraflı optik disk solukluğu belirledik Anahtar kelimeler: Joubert Sendromu Vermiş Hipoplazisi Anormal Göz Hareketleri

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Cite This Article

TÜRDOĞAN-SÖZÜER, D., SUYUGÜL, Z., YÜKSEL, A., CENANİ, A., YALÇIN, E. (1994). Joubert Syndrome: A Case Report. Türk Pediatri Arşivi, Cilt: 29 Sayı: 3, 1–1. https://ajindex.com/articles/1012458

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