Results 21 to 30 of about 5,733 (168)
Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome [PDF]
Developmental Medicine & Child NeurologyAbstractHydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed.
Michal Gafner +9 more
openaire +3 more sources
“Molar Tooth Sign” Reveals the Cause of Apnea in a Term Neonate [PDF]
The Journal of Pediatrics, 2016 Salman, Rashid +2 more
openaire +3 more sources
Periventricular nodular heterotopias an atypical manifestation of Joubert syndrome
Nepal Journal of Neuroscience, 2021 Joubert syndrome (JS) is characterized by varying degrees of mid and hindbrain malformations. A thickened superior cerebellar peduncle (“molar tooth sign”), varying degree of cerebellar vermian clefting, and an oddly shaped (“bat-wing”) fourth ventricle ...
Himanshu Mishra, Amit Kumar
doaj +1 more source
Joubert syndrome: a case report of neonatal presentation and early diagnosis
Boletín Médico del Hospital Infantil de México, 2023 Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described.
Carla I. González-Gordillo +4 more
doaj +1 more source
When you find a tooth in the brain, call joubert for help
APIK Journal of Internal Medicine, 2020 Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Suhas Murali, Karthik Nagraj
doaj +1 more source