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72 Possible Causes for Molar Tooth Sign on MRI

  • Joubert Syndrome Type 3

    tooth sign’ on MRI cerebellar vermis hypoplasia dysgenesis or agenesis of the cerebellar vermis deep posterior interpeduncular fossa thick and elongated superior cerebellar[humpath.com] MRI of the brain showed the classical molar tooth sign in the axial cuts [Figure 4]. With the above findings a diagnosis of Joubert syndrome was made.[jclpca.org] Gyanchand, V Chowdhury, R Dixit, S Singh Keywords cerebellar peduncles, cerebellar vermis, isthmus, joubert's syndrome, molar- tooth sign, mri Citation Gyanchand, V Chowdhury[ispub.com]

  • Joubert Syndrome Type 9 with Oculorenal Defect

    Gyanchand, V Chowdhury, R Dixit, S Singh Keywords cerebellar peduncles, cerebellar vermis, isthmus, joubert's syndrome, molar- tooth sign, mri Citation Gyanchand, V Chowdhury[ispub.com] The unifying pathognomonic sign is a cerebellar vermis hypoplasia presenting in MRI as the so called “molar tooth sign”.[neocyst.de] The phenotypic hallmark of JSRD is the presence on MRI of 'molar tooth sign' (a midbrain-hindbrain malformation).[orpha.net]

  • Joubert Syndrome Type 15

    Joubert syndrome (JS) and related disorders are characterized by the 'molar tooth sign' (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental[iths.pure.elsevier.com] MRI of the older sibling demonstrated the characteristic “molar tooth sign” (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling.[hindawi.com] tooth sign'' (MTS) on magnetic resonance imaging (MRI).[orpha.net]

  • Joubert Syndrome 22 with Orofaciodigital Defect 6

    Their characteristic features include cerebellar vermis hypoplasia and a brain stem malformation that presents as the diagnostic marker “molar tooth sign” in magnetic resonance[synapse.koreamed.org] tooth sign), both of which can be visualized on a MRI scan . [10] Together with this sign, the diagnosis is based on the physical symptoms and genetic testing for mutations[en.wikipedia.org] […] imaging (MRI).[synapse.koreamed.org]

  • Joubert Syndrome Type 17

    tooth sign’ on MRI cerebellar vermis hypoplasia dysgenesis or agenesis of the cerebellar vermis deep posterior interpeduncular fossa thick and elongated superior cerebellar[humpath.com] These issues are due to abnormal brain development, resulting in decreased size of the cerebellar vermis and other brain abnormalities that appear as the “molar tooth sign[ollibean.com] Gyanchand, V Chowdhury, R Dixit, S Singh Keywords cerebellar peduncles, cerebellar vermis, isthmus, joubert's syndrome, molar- tooth sign, mri Citation Gyanchand, V Chowdhury[ispub.com]

  • Uveal Coloboma - Cleft Lip and Cleft Palate - Intellectual Disability

    tooth sign on MRI Strabismus Pendular nystagmus Chorioretinal coloboma Esotropia Retinal detachment Bilateral cleft lip Bilateral cleft lip and palate Cleft upper lip Posterior[mendelian.co] Microcephaly Hyperreflexia Rod-cone dystrophy Ptosis Hypoplasia of the corpus callosum Nevus Glaucoma Retinal dystrophy Cerebellar vermis hypoplasia CNS hypomyelination Molar[mendelian.co]

  • X-linked Intellectual Disability-Retinitis Pigmentosa Syndrome

    sign” on MRI.[dnatesting.uchicago.edu] The second condition is an X-linked recessive form of Joubert syndrome, with the phenotype including polydactyly, retinitis pigmentosa, and the presence of a “molar tooth[dnatesting.uchicago.edu]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    tooth sign on MRI Strabismus Pendular nystagmus Chorioretinal coloboma Esotropia Retinal detachment Bilateral cleft lip Bilateral cleft lip and palate Cleft upper lip Posterior[mendelian.co] Microcephaly Hyperreflexia Rod-cone dystrophy Ptosis Hypoplasia of the corpus callosum Nevus Glaucoma Retinal dystrophy Cerebellar vermis hypoplasia CNS hypomyelination Molar[mendelian.co]

  • Chromosome 6q11-q14 Deletion Syndrome

    tooth sign on MRI Short neck Wide nasal bridge Downslanted palpebral fissures Hypertelorism Seizures Postaxial polydactyly Polydactyly Growth delay Rare Symptoms - Less than[mendelian.co] Inguinal hernia. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Scoliosis Autosomal recessive inheritance Microcephaly Ataxia Molar[mendelian.co]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    tooth sign on MRI Occipital encephalocele Postaxial foot polydactyly Cleft lip Dandy-Walker malformation Growth delay Microcephaly Strabismus Cataract Ptosis Hydronephrosis[mendelian.co] Anencephaly Postaxial polydactyly Cephalocele Bile duct proliferation Bowing of the long bones Encephalocele Intrauterine growth retardation Rare Symptoms - Less than 30% cases Molar[mendelian.co]

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