Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. [PDF]
Case Rep Pediatr, 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.
Sanjeev RK +4 more
europepmc +8 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 ...
Shaik L +4 more
europepmc +7 more sources
A characteristic image in Joubert syndrome: molar tooth sign. [PDF]
Pan Afr Med J, 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.
Sghir M, Kesomtini W.
europepmc +7 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 +8 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
Nag C, Ghosh M, Das K, Ghosh T.
europepmc +7 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 +5 more
doaj +9 more sources
Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants. [PDF]
BMC Med Genomics, 2021 Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions.
Chen C, Gao J, Lv Q, Xu C, Xia Y, Du A.
europepmc +7 more sources
Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign. [PDF]
Ultrasound Obstet GynecolPooh RK +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 +4 more sources
Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome [PDF]
Ultrasound in Obstetrics & Gynecology, 2011 AbstractThe characteristic imaging finding common to Joubert syndrome and related disorders is the ‘molar tooth’ sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in families with an affected child has been reported previously.
D. Pugash +6 more
semanticscholar +5 more sources