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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
Joubert syndrome and related disorders (JSRD)
Autosomal recessive genetic disorders with impaired ciliary function
6 subtypes, all have molar tooth sign
Some dispute in literature regarding nomenclature as very heterogeneous phenotype
Requirements for diagnosis of classic Joubert syndrome
Hindbrain malformation presenting as molar tooth sign on MR
Intellectual impairment
Hypotonia
One of ciliopathies
Group of hereditary defects of primary (nonmotile) cilia causing a wide range of overlapping syndromes involving liver, kidneys, multiple organ systems
Primary cilium has many key roles in embryonic development, inherited diseases
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Quarello E et al: Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 43(2):227-32, 2014
Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
İncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
Vogel TW et al: Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst. 28(7):1109-12, 2012
Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
Poretti A et al: Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics. 42(4):170-4, 2011
Saleem SN et al: Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol. 31(3):424-9, 2010
Parisi MA: Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 151C(4):326-40, 2009
Aslan H et al: Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound. 36(9):576-80, 2008
Valente EM et al: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 51(1):1-23, 2008
Baala L et al: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 80(1):186-94, 2007
Fluss J et al: Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 21(4):320-4, 2006
Doherty D et al: Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 25(6):442-7, 2005
Gleeson JG et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 125(2):125-34; discussion 117, 2004
Hodgkins PR et al: Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 46(10):694-9, 2004
Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14(9):583-90; discussion 590-1, 1999
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
Joubert syndrome and related disorders (JSRD)
Autosomal recessive genetic disorders with impaired ciliary function
6 subtypes, all have molar tooth sign
Some dispute in literature regarding nomenclature as very heterogeneous phenotype
Requirements for diagnosis of classic Joubert syndrome
Hindbrain malformation presenting as molar tooth sign on MR
Intellectual impairment
Hypotonia
One of ciliopathies
Group of hereditary defects of primary (nonmotile) cilia causing a wide range of overlapping syndromes involving liver, kidneys, multiple organ systems
Primary cilium has many key roles in embryonic development, inherited diseases
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Quarello E et al: Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 43(2):227-32, 2014
Valente EM et al: Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet. 21(10), 2013
İncecik F et al: Joubert syndrome: report of 11 cases. Turk J Pediatr. 54(6):605-11, 2012
Vogel TW et al: Craniovertebral junction abnormality in a case of Joubert syndrome. Childs Nerv Syst. 28(7):1109-12, 2012
Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
Poretti A et al: Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics. 42(4):170-4, 2011
Saleem SN et al: Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol. 31(3):424-9, 2010
Parisi MA: Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 151C(4):326-40, 2009
Aslan H et al: Prenatal ultrasonographic features of Joubert syndrome. J Clin Ultrasound. 36(9):576-80, 2008
Valente EM et al: Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 51(1):1-23, 2008
Baala L et al: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 80(1):186-94, 2007
Fluss J et al: Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 21(4):320-4, 2006
Doherty D et al: Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 25(6):442-7, 2005
Gleeson JG et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 125(2):125-34; discussion 117, 2004
Hodgkins PR et al: Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 46(10):694-9, 2004
Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14(9):583-90; discussion 590-1, 1999
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