نتایج جستجو برای: joubert syndrome

تعداد نتایج: 622071  

Journal: :Paediatrics & Child Health 2003

Journal: :The Spanish Journal of Psychology 2001

Journal: :American Journal of Medical Genetics Part A 2017

Journal: :Acta neurologica Belgica 2009
Deniz Yerdelen Filiz Koç Zafer Koç

Joubert syndrome (JS) is an inherited disorder characterized by transient episodic hyperpnea, ataxia, and vermian hypoplasia. Typical imaging findings of JS include hypoplasia or aplasia of the cerebellar vermis, thick and elongated superior cerebellarpeduncles and an abnormally deep interpeduncular fossa with 'molar tooth sign'. We present a case of JS associated with deep cerebral sulci and f...

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