Results 271 to 280 of about 2,206,324 (288)

MR imaging of Joubert's syndrome

Computerized Medical Imaging and Graphics, 1995
Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs),
openaire   +3 more sources

Anesthetic management in Joubert syndrome

Pediatric Anesthesia, 2004
SummaryWe review the anesthetic implications of Joubert syndrome and report that spinal anesthesia under intravenous propofol sedation proved satisfactory for repair of an inguinal hernia in a spontaneously ventilating infant with this syndrome. We caution that anatomical peculiarities may complicate performance of a caudal epidural block and suggest ...
Gregory J. Gordon, Darko J. Vodopich
openaire   +3 more sources

Neurobehavioral Development in Joubert Syndrome

Journal of Child Neurology, 1998
Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date.
Eileen B. Fennell, Bernard L. Maria, Duane E. Dede, Jill Gitten, Ronald G. Quisling   +4 more
openaire   +2 more sources

MRI findings in Joubert syndrome

The Indian Journal of Pediatrics, 2009
Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings.
Naseer A. Choh, Shabir A. Bhat, Suhil A. Choh, Majid Jehangir   +3 more
openaire   +3 more sources

Cytomegalovirus infection and Joubert's syndrome

Computerized Medical Imaging and Graphics, 1997
A patient with serologically proven congenital cytomegalovirus (CMV) infection is described with periventricular calcifications on CT. The condition was associated with the typical cerebellar changes of clinicoradiologically proven Joubert's syndrome.
openaire   +4 more sources

Variability of Outcome in Joubert Syndrome

Neuropediatrics, 1985
Two children with Joubert syndrome are reported. Patient one is the first case with Joubert syndrome where CT-findings are confirmed by autopsy. Until now only three cases with necropsy findings were reported. Patient two shows a remarkable clinical outcome not previously mentioned.
Paul Casaer, J. S. H. Vles, René Dom, Marc Boel, Hugo Devlieger, Ephrem Eggermont   +5 more
openaire   +3 more sources

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

Journal of Human Genetics, 2023
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, M. Nakashima, T. Ogata, H. Saitsu   +6 more
semanticscholar   +1 more source

Meckel and Joubert Syndromes

2010
Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated with defects in the structure and/or the function of the primary cilium.
Laura S. Finn, Ian A. Glass, Melissa A. Parisi   +2 more
openaire   +2 more sources

New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations

Cerebellum, 2023
Niccolò Butti, V. Oldrati, E. Ferrari, R. Romaniello, C. Gagliardi, R. Borgatti, C. Urgesi   +6 more
semanticscholar   +1 more source

Joubert syndrome

2023
openaire   +1 more source