Özlem HERGÜNER, Şakir ALTUNBAŞAK, Mürüvet ELKAY, Faruk İNCECİK, İmran ÖZBEK

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Joubert sendromu: Bir olgu sunumu

Joubert sendromu, otozomal resesif geçiş gösteren, epizodik hiperpne, anormal göz hareketleri, hipotoni, ataksi, gelişme geriliği, beyin ve beyincik bozuklukları ile kendini gösteren bir hastalıktır. Biz de hipotoni, büyüme ve gelişme geriliği nedeniyle başvuran olguda Joubert tanısını koyduk ve nadir görüldüğü için sunduk.

Joubert syndrome: A case report

Joubert syndrome, an autosomal recessive disorder, which is characterized by episodic hyperpnea, abnormal eye movements, hypotonia,ataxia, developmental delay, cerebral and cerebellar abnormalities. Due .to its rare occurrence, we presented a case who was admitted with the complaints of hypotonia and delay in growth and developmental milestones and diagnosed as Joubert syndrome.
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Çukurova Üniversitesi Tıp Fakültesi Dergisi-Cover
  • ISSN: 0250-5150
  • Yayın Aralığı: 4
  • Yayıncı: Tülay Candan
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