%0 Journal Article
%T Joubert Syndrome: A Case Report
%A M¨¹r¨¹vet Ak£¿n
%A Emel Boyraz
%J Journal of Clinical and Analytical Medicine
%D 2012
%I Derman Medical Publishing
%R 10.4328
%X Joubert Syndrome is a rare autosomal recessive disorder characterized with hypotonia, ataxia, mental and motor retardation, episodic tachypnea-apnea and oculomotor anomalies. Prognosis is poor in patients with hypotonia and severe growth retardation. Its characteristic imaging finding is hypoplasia of cerebellar vermis and ¡®molar tooth sign¡¯ in brainstem. Dandy-Walker formation and Down Syndrome take part in differential diagnosis. Clinical findings of Joubert Syndrome are quite heterogenous. Thus determination of radiological findings is essential. In this paper, a case who applied to our clinic with complaint of headache and who had mild mental-motor retardation and diagnosed as Joubert Syndrome radiologically was presented.
%K Cerebellum
%K Molar Tooth
%K Magnetic Resonance Imaging
%U http://www.jcam.com.tr/files/KATD-592.pdf