Joubert syndrome: a case confirmed by computerized tomography / Paolo CURATOLO in Developmental Medicine & Child Neurology, 22-3 (June 1980)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 22-3 (June 1980) . - p.362-6 Titre : Joubert syndrome: a case confirmed by computerized tomography Type de document : Texte imprimé et/ou numérique Auteurs : Paolo CURATOLO, Auteur ; Sandro MERCURI, Auteur ; Enrico COTRONEO, Auteur Année de publication : 1980 Article en page(s) : p.362-6 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The authors report a new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia, abnormal eye-movements) and review the relevant literature on the other nine cases reported. The diagnosis in the present case was confirmed by computerized tomography. Early recognition of this syndrome is important in view of the prognosis and for genetic counseling. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=509 [article] Joubert syndrome: a case confirmed by computerized tomography [Texte imprimé et/ou numérique] / Paolo CURATOLO, Auteur ; Sandro MERCURI, Auteur ; Enrico COTRONEO, Auteur . - 1980 . - p.362-6. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 22-3 (June 1980) . - p.362-6 Index. décimale : PER Périodiques Résumé : The authors report a new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia, abnormal eye-movements) and review the relevant literature on the other nine cases reported. The diagnosis in the present case was confirmed by computerized tomography. Early recognition of this syndrome is important in view of the prognosis and for genetic counseling. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=509

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