Results 11 to 20 of about 5,944 (238)

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report [PDF]

Radiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD, Bemnet Mengesha Tessema, MD, Redaie Girmay Gebrekidan, MD   +2 more
doaj   +2 more sources

The molar tooth sign and the bat wing appearance in Joubert syndrome

Clinical and Biomedical Research, 2018
A 10-year-old female patient was brought to the outpatient clinic with a history of neurodevelopmental delay, gait and limb incoordination, and oculomotor apraxia.
Matheus Dorigatti Soldatelli, Natália Henz Concatto, Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Juliano Adams Perez, Juliana Ávila Duarte   +5 more
doaj   +6 more sources

Joubert Syndrome: A Rare Case Highlighting the Significance of the Molar Tooth Sign [PDF]

Journal of Clinical and Diagnostic Research
Joubert Syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder characterised by malformation of the cerebellar vermis and brainstem, leading to a wide spectrum of neurological manifestations.
Prerna Jain, Rajesh Kumar Rathore, Parth Nikhil Doshi   +2 more
doaj   +2 more sources

“Mini Molar Tooth” Sign in POLR3B ‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy [PDF]

Movement Disorders Clinical Practice
Luca Marsili, Donald L Gilbert
exaly   +2 more sources

Molar tooth sign

Journal of Paediatrics and Child Health, 2012
Partha S Ghosh, Manikum Moodley
exaly   +4 more sources

Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign. [PDF]

Ultrasound Obstet Gynecol
Pooh RK, Takeda M, Itoh K, Yoshimatsu J, Ogo K, Machida M, Ohashi H, Shimokawa O.   +7 more
europepmc   +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, Leslie E. Orozco-Soto, Juan R. Osegueda-Mayen, Alejandra Nava-Tapia, Dario Martinez-Monreal   +4 more
doaj   +1 more source

Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality

Journal of Bahria University Medical and Dental College, 2021
Joubert’s syndrome is a rare genetic disorder. It is an autosomal recessive neuro-developmental disorder involving mid and hind brain. This report describes a fetus at gestational age 16weeks+ 6 days, who presented with characteristic Molar tooth sign ...
Prabha Sinha, Shabnum Sibtain
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