Results 31 to 40 of about 6,129 (165)

Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up [PDF]

, 2010
Joubert syndrome is a disorder characterized by ataxia, developmental delay, oculomotor anomalies, and breathing irregularities, with cerebellar vermian and midbrain dysgenesis.
Leonardo Salviati, Romano Tenconi, Anna Maria Laverda, Manuela Fortuna, Kathrin Ludwig, Stefano Sartori, Milena Calderone, Cinzia Marzocchi, Irene Toldo   +8 more
core   +3 more sources

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

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

BMC Pediatrics, 2023
Background Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign”, and variable organ involvement (such as eye, kidney, liver, and ...
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun   +7 more
doaj   +1 more source

A case of Joubert syndrome caused by novel compound heterozygous variants in the gene

Journal of International Medical Research, 2023
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging.
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky   +9 more
doaj   +1 more source

Infratentorial Magnetic Resonance Imaging Evaluation of Joubert Syndrome [PDF]

International Journal of Anatomy Radiology and Surgery, 2017
Introduction: Joubert syndrome is rare autosomal recessive/X-linked disorder involving the posterior fossa structures. It is often missed clinically and radiologically.
Preetam B Patil, Santosh K Dasar, Shamsundar K Joshi, Anithraj Y Bhat   +3 more
doaj   +1 more source

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing [PDF]

, 2021
Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific cerebellar and brainstem malformation recognizable on brain imaging as the “molar tooth sign” (MTS). Clinical signs include hypotonia, developmental delay, breathing
Pinelli L., Panzeri E., Jocic-Jakubi B., Righini A., Manti F., Bonaglia M. C., Chiapparini L., Serpieri V., Pichiecchio A., Borgatti R., D'Abrusco F., Valente E. M., Arrigoni F., Lucarelli E., Leuzzi V., Romaniello R., Caputi C.   +16 more
core   +1 more source

Rare case of a floppy neonate: Joubert syndrome

Current Medicine Research and Practice, 2021
Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures.
Kumar Ankur, Aparna Prasad, Sanjeev Chetry, Rajni Farmania, Sachin Jain   +4 more
doaj   +1 more source

A case report of Joubert syndrome with renal involvement and seizures in a neonate

Radiology Case Reports, 2021
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc   +9 more
doaj   +1 more source

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome [PDF]

, 2023
Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome.
Gezdirici, Alper, İçağasıoğlu, Dilara Füsun, Ertürk, Biray, Altunoğlu, Umut, Kutbay, Yaşar Bekir, Ayaz, Akif, Eser, Metin, Yarar, Murat Hakkı, Uyanık, Bülent, Aydın, Kürşad, Gökpınar İli, Ezgi, Aksu Uzunhan, Tuğçe   +11 more
core   +5 more sources

Genetic Varieties of Jouberts Syndrome

Pediatric Neurology Briefs, 2005
Four families with linkage to two loci for Jouberts syndrome (JS), JBTS1 or JBTS2, and clinical and radiographic correlations for 4 known genetic causes of JS-related disorders (JSRD) are described in a report from University of California-San Diego, La ...
J Gordon Millichap
doaj   +1 more source