Results 11 to 20 of about 17,153 (289)

Molar tooth sign − looking beyond the obvious

South African Journal of Radiology, 2013
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
doaj   +5 more sources

Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome)

Annals of Indian Academy of Neurology, 2011
Byju N, Jose James, Saifudheen K, Musthafa Mohammed   +3 more
doaj   +4 more sources

Joubert Syndrome: A Molar Tooth Sign in Disguise. [PDF]

Cureus, 2020
Joubert syndrome (JS) is a rare genetic ciliopathy characterized by the aplasia or malformation of the midbrain and or hindbrain structures. It usually manifests during the early stages with nonspecific neurological symptoms that progress to involve multiple systems.
Shaik L, Ravalani A, Nelekar S, Gorijala VK, Shah K.   +4 more
europepmc   +4 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: the molar tooth sign of the mid-brain.

Ann Med Health Sci Res, 2013
Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease.
Nag C, Ghosh M, Das K, Ghosh T.
europepmc   +4 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

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

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