Rhombencephalosynapsis: a Viennese malformation? / W. SCHACHENMAYR in Developmental Medicine & Child Neurology, 24-2 (April 1982)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 24-2 (April 1982) . - p.178-182 Titre : Rhombencephalosynapsis: a Viennese malformation? Type de document : Texte imprimé et/ou numérique Auteurs : W. SCHACHENMAYR, Auteur ; R. L. FRIEDE, Auteur Année de publication : 1982 Article en page(s) : p.178-182 Langues : Anglais (eng) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=526 [article] Rhombencephalosynapsis: a Viennese malformation? [Texte imprimé et/ou numérique] / W. SCHACHENMAYR, Auteur ; R. L. FRIEDE, Auteur . - 1982 . - p.178-182. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 24-2 (April 1982) . - p.178-182 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=526

Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome / R. L. FRIEDE in Developmental Medicine & Child Neurology, 20-6 (December 1978)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 20-6 (December 1978) . - p.758-763 Titre : Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome Type de document : Texte imprimé et/ou numérique Auteurs : R. L. FRIEDE, Auteur ; Eugen BOLTSHAUSER, Auteur Année de publication : 1978 Article en page(s) : p.758-763 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea, abnormal eye-movements, ataxia and retardation). The findings consisted of an almost total aplasia of the cerebellar vermis; dysplasias and numerous heterotopias of cerebellar nuclei; an almost total absence of pyramidal decussation; and anomalies in the structure of the inferior olivary nuclei, the descending trigeminal tract, solitary fascicle and of the dorsal column nuclei. The lesion resembled the Dandy-Walker malformation or simple aplasia of the cerebellar vermis in some of its aspects, but there were numerous others to set it apart--at least tentatively--as a distinct nosologic entity. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 [article] Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome [Texte imprimé et/ou numérique] / R. L. FRIEDE, Auteur ; Eugen BOLTSHAUSER, Auteur . - 1978 . - p.758-763. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 20-6 (December 1978) . - p.758-763 Index. décimale : PER Périodiques Résumé : Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea, abnormal eye-movements, ataxia and retardation). The findings consisted of an almost total aplasia of the cerebellar vermis; dysplasias and numerous heterotopias of cerebellar nuclei; an almost total absence of pyramidal decussation; and anomalies in the structure of the inferior olivary nuclei, the descending trigeminal tract, solitary fascicle and of the dorsal column nuclei. The lesion resembled the Dandy-Walker malformation or simple aplasia of the cerebellar vermis in some of its aspects, but there were numerous others to set it apart--at least tentatively--as a distinct nosologic entity. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485

Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele / R. L. FRIEDE in Developmental Medicine & Child Neurology, 20-6 (December 1978)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 20-6 (December 1978) . - p.764-772 Titre : Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele Type de document : Texte imprimé et/ou numérique Auteurs : R. L. FRIEDE, Auteur Année de publication : 1978 Article en page(s) : p.764-772 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Two new cases are reported of a rare syndrome of malformation consisting of occiptal encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele [Texte imprimé et/ou numérique] / R. L. FRIEDE, Auteur . - 1978 . - p.764-772. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 20-6 (December 1978) . - p.764-772 Index. décimale : PER Périodiques Résumé : Two new cases are reported of a rare syndrome of malformation consisting of occiptal encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

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