Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality

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 on the antenatal scan. This sign is a salient feature of Joubert syndrome (JS). Mostly the diagnosis of JS is made after birth. Few cases are diagnosed prenatally by ultrasound.

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Joubert Syndrome: A Case Report

Nepal Journal of Neuroscience ◽

10.3126/njn.v15i1.20023 ◽

2018 ◽

Vol 15 (1) ◽

pp. 23-26 ◽

Cited By ~ 1

Author(s):

Prakash Kafle ◽

Sushil Krishna Shilpakar ◽

Mohan Raj Sharma ◽

Gopal Sedain ◽

Amit K Pradhanang ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Case Report ◽

Fourth Ventricle ◽

Autosomal Recessive ◽

Developmental Disorder ◽

Joubert Syndrome ◽

Cerebellar Vermis ◽

Resonance Imaging ◽

Molar Tooth Sign ◽

Magnetic Resonance Imaging Mri

Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle. Nepal Journal of Neuroscience 15:23-26, 2018

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Molar tooth sign − looking beyond the obvious

South African Journal of Radiology ◽

10.4102/sajr.v17i3.275 ◽

2013 ◽

Vol 17 (3) ◽

pp. 102-103

Author(s):

Nasreen Mahomed ◽

Sanjay P. Prabhu

Keyword(s):

Autosomal Recessive ◽

Brain Mri ◽

Clinical Signs ◽

Autosomal Recessive Disorder ◽

Joubert Syndrome ◽

Molar Tooth ◽

Imaging Studies ◽

Molar Tooth Sign ◽

Delay In Diagnosis ◽

Vermian Hypoplasia

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 cerebellar vermian hypoplasia. Subsequently, it emerged that the molar tooth sign encompasses many syndromes that are now grouped together and termed Joubert syndrome and related disorders (JSRDs). Knowledge of the newer classification system and the subtypes is important and helps to direct and interpret imaging studies based on clinical signs so as to avoid delay in diagnosis of the hepatic oculorenal and renal subtypes of JSRDs in patients in whom the molar tooth sign is identified on brain MRI.

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Joubert’s syndrome: a case report

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20204053 ◽

2020 ◽

Vol 7 (10) ◽

pp. 2068

Author(s):

Kapil S. Bainade ◽

Veeranna A. Kotrashetti ◽

Vijay B. Sonawane ◽

Amit Vatakar ◽

Shuchi R. Bhatarkar

Keyword(s):

Genetic Disorder ◽

Signs And Symptoms ◽

Joubert Syndrome ◽

Molar Tooth ◽

Breathing Patterns ◽

Molar Tooth Sign ◽

Specific Finding ◽

Abnormal Breathing ◽

Magnetic Resonance Imaging Mri ◽

The Brain

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This syndrome is difficult to diagnose clinically because of its variable phenotype. Signs and symptoms commonly include hypotonia abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. This condition is characterized by a specific finding on an magnetic resonance imaging (MRI) called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The exact diagnosis is often not made for several years after birth.We present a case of Joubert syndrome in a thirteen year old male with developmental delay, ataxia, mild hypotonia, nystagmus and molar tooth sign on MRI. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counselling and proper rehabilitation.

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