. 2002; 17(4): 245-246 | |||
A Neonatal Case of Joubert SyndromeAbdulkadir Bozaykut, Enver Atay, İlke Özahi İpek, Zeynep Atay, Nihan Uygur, Neslihan GülseverZeynep Kamil Maternity and Children Diseases Education and Research Hospital, Department of Pediatrics, IstanbulJoubert Syndrome is a rare syndrome characterised by hypoplasia of the cerebellar vermis, hypotonia, abnormal eye movements, abnormal breathing pattern, ataxia, developmental delay and mental retardation. A 4-day old boy was referred to our clinics with the complaints of difficulty in breathing and convulsions. Cranial MRI taken in the axial Joubert Sendromlu Bir YenidoğanAbdulkadir Bozaykut, Enver Atay, İlke Özahi İpek, Zeynep Atay, Nihan Uygur, Neslihan GülseverZeynep Kamil Kadın Doğum ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi Çocuk Kliniği, İstanbulAnahtar Kelimeler: Joubert sendromu, yenidoğan Abdulkadir Bozaykut, Enver Atay, İlke Özahi İpek, Zeynep Atay, Nihan Uygur, Neslihan Gülsever. A Neonatal Case of Joubert Syndrome. . 2002; 17(4): 245-246 Corresponding Author: Abdulkadir Bozaykut, Türkiye |
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