Familial agenesis of the cerebellar vermis

Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis.Asyndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 19:813-25, 1969...

M Joubert，JJ Eisenring，J Preston，... - 《Neurology》

Familial agenesis of cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Preston,Frederick Andermann.Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation[J]....

M Joubert，J Einsenring，J Robb，... - 《Neurology Official Journal of the American Academy of Neurology》

Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome

SUMMARYNecropsy 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 th...

RL Friede，E Boltshauser - 《Developmental Medicine & Child Neurology》

Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis.

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds...

E Andermann，F Andermann，M Joubert，... - 《Birth Defects Original Article》

Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations

Joubert syndrome (JS) is a rare autosomal recessive syndrome characterised by agenesis or dysgenesis of the cerebellar vermis with accompanying brainstem m...

C. L. Bennett, J. Meuleman, P. F. Chance, I. A. Glass - 《Current Genomics》

Síndrome de Joubert: a propósito de cuatro hermanos adultos afectados / Joubert syndrome: report of four adult siblings affected####Muerte neuronal que o...

four cases with partial or total agenesis of the cerebellar vermis, apnea-hyperpnea neonatal episodic, abnormal eye movements, ataxia and mental retardation....

J Angemi，J Zuccotti - 《Rev Neurol》

Clinically mild form of joubert syndrome-related disorder in a 7-year-old female: A case report

RD) is a very rare syndrome observed with agenesis of the vermis,episodic hyperpnea, abnormal eye movements, and cerebellar ataxia and mental retardation. ...

G Imataka，Y Watabe，O Arisaka - 《Dokkyo Journal of Medical Sciences》

The management of Joubert Syndrome in Physical Medicine and Rehabilitation department

Since Joubert et al. first described a familial syndrome comprised of agenesis of the cerebellar vermis, episodic hyperpnea and apnea, abnormal eye movemen...

M Sghir，AH Salah，E Toulgui，...

\"Joubert Syndrome\" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermia...

BL Maria，Hoang, K. B.N.，RJ Tusa，... - 《Journal of Child Neurology》

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.

Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and truncal ataxia. We previously...

B，L，Maria，... - 《Journal of Child Neurology》