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A characteristic image in Joubert syndrome: molar tooth sign [PDF]

The Pan African Medical Journal, 2015
Joubert syndrome is a relatively rare autosomal recessive congenital disorder; it is characterized by cerebellar vermis hypoplasia or aplasia. Characteristic clinical symptoms and signs include motor and respiratory abnormalities.
Mouna Sghir, Wassia Kesomtini
doaj   +7 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   +5 more sources

Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants [PDF]

BMC Medical Genomics, 2021
Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions.
Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia, Ailian Du   +5 more
doaj   +4 more sources

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   +7 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   +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   +6 more sources

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome [PDF]

Case Reports in Pediatrics, 2015
We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson   +4 more
doaj   +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   +7 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   +5 more sources

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   +3 more sources