MedGen UID: 832951 • Concept ID: CN228298 • Finding Recent clinical studies. Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. In, the other nine patients, there was either tecto-cerebellar, dysplasia or the Dandy Walker malformation, in, addition to the characteristic MR imaging features of, Joubert syndrome. Typical Joubert syndrome MRI findings. recessive pattern, and more than 23 genes are known to be associated with JSRD. 140874) is a complex set of neurodevelopmental disorders Louie CM, Gleeson JG. Case report: 3 Furthermore, Joubert syndrome may present with variable clinical features especially in early infancy. with Joubert syndrome.They reported various, morphological abnormalities in the isthmus and rostral, brainstem. Joubert syndrome: a clinico-radiological study. The 5-year survival rate is 50%. They classified these patients as, The prognosis of these patients is poor,with a five-, year survival rate of only 50%. Prominant median clef is seen seprating the two. The clinical signs and MRI findings of JS are not easily recognized especially in mildly affected The cerebellar vermis is typically hypoplastic or completely absent, at the same time, the superior cerebellar 1 It is characterized by episodic hyperpnea, abnormal eye movements, ataxia, and developmental delay with the pathognomonic finding of a “molar tooth sign” (MTS) on magnetic resonance imaging (MRI) of the brain. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. Neuropathology of Joubert syndrome. To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI. PubMed Google Scholar. Methods Brain MRI of 110 patients with Joubert syndrome was included in this study. Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. A 4-month-old full-term male infant was referred for magnetic resonance (MR) imaging because he had an increased head circumference (greater than 97th percentile), developmental delay, abnormal eye movements with suspected blindness, and episodes of abnormal breathing. Veterinary Radiology & Ultrasound, Vol. abnormalities and histogenesis of Joubert syndrome. Joubert syndrome (JS) is a rare genetic disorder that was first described in 1969.1 It is characterized by episodic hyperpnea, abnormal eye movements, ataxia, and developmental delay with the pathognomonic finding of a “molar tooth sign” (MTS) on magnetic resonance imaging (MRI) of the brain.1–3 MTS refers to … an individual. Prenatal, diagnosis of at risk pregnancies is now possible utilizing, serial ultrasounds combined with fetal MRI at 20-22 week’s, depressant effects of anaesthetic agents, like opiates and, nitrous oxide. Recently, advantages were made in genetic research on the Joubert syndrome and interesting findings published about diffusion tensor imaging and tractography. The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). Joubert syndrome is a rare autosomal recessive disorder, characterized by abnormal respiratory pattern and eye, movements, hypotonia, ataxia, developmental, retardation with neuropathologic abnormalities of, cerebellum and brainstem including inherited, hypoplasia or aplasia of vermis. Joubert syndrome (JS) was first described in 1969 by Marie Joubert and colleagues, who reported a 6-month-old infant with an abnormal, rapid breathing pattern and developmental delay (Joubert et al., 1969). Typical magnetic resonance imaging (MRI) findings of Joubert syndrome including “molar tooth sign” and “batwing appearance” are discussed which strongly suggest the diagnosis. Till date mutations in 34 genes are causal in Joubert syndrome, of which 33 are autosomal recessive and one X-linked. hemispheres (buttocks sign); superior cerebellar peduncles, Indian Journal of Pediatrics, Volume 76—February, fastigium(black arrow) and lack of primary fissure with, communicating inferiorly with inferior cerebellar, superior cerebellar peduncles with large aqueduct giving. Adv Neonatal Care 2003; 4: 178–186. Google Scholar. Ocular abnormalities such as nystagmus. Patients with nonsyndromic focal cerebellar dysplasia (isolated focal cerebellar cortical dysplasia [n = 2], cerebellar heterotopia with cerebellar cortical dysplasia [n = 1], idiopathic diffuse cerebellar dysplasia [n = 1], Lhermitte-Duclos syndrome [n = 1]) and those with cerebellar hypoplasia (isolated cerebellar hypoplasia [n = 6], pontocerebellar hypoplasia type 1 [n = 1]) had normal cerebra. Joubert syndrome is a rare, most often autosomal-recessive disorder with a characteristic malformation of the midhindbrain. Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. Even more striking was dysplasia of the caudal medulla at the cervicomedullary junction, which was characterized by the absence of a posterior median sulcus, neuronal swelling and axonal spheroids in the region of malformed nuclei gracilis and cuneatus, and absence of pyramidal decussation. J Child Neurol 1997; 12:423-430. The bilateral superior cerebellar peduncles are thickened and elongated. One child had, in addition, dysgenesis of the corpus callosum. MRI findings in Joubert syndrome Choh, Suhil; Choh, Naseer; Bhat, Shabir; Jehangir, Majid 2009-02-01 00:00:00 Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings. Article It is characterized by agenesis of the cerebellar vermis, and patients typically present with episodic hyperpnea, irregular eye movements, ataxia, and intellectual disability [1,2,3]. Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings. Joubert Syndrome (JS) is a rare genetic condition that may be sporadic or autosomal recessive in nature. MRI brain was done which showed typical molar tooth, In 1969, a French neurologist Marie Joubert, reported a. series of five cases of children with mental retardation. Specific morphologic features include: (1) dysgenesis of the isthmic portion of the brain stem at the pontomesencephalic junction, (2) abnormally thick superior cerebellar peduncles perpendicular to the brain stem, (3) hypoplasia of the cerebellar vermis with consequent enlargement of the 4th ventricle and rostral shift of the fastigium, and (4) sagittal vermic clefting. Article All patients had VH and enlargement of the fourth ventricle. A 16 month old male child with Joubert syndrome was referred to the Pediatric Dentistry Department Clinic, Faculty of Dentistry Alexandria University, complaining of severe tongue and lower lip injury due to self-mutilation. “Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation. cerebellar hemispheres (open white arrow). Study of a new case and review of the literature], Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts, [Neuroradiological aspects of Joubert syndrome: an analysis of two cases], Macrocerebellum: Neuroimaging and Clinical Features of a Newly Recognized Condition. Moderate lateral ventricular enlargement due to atrophy has been described in 6-20% of cases. There was no history of birth, asphyxia. Philadelphia: Lipincott Williams & Wilkins; 2002: 345–346. Joubert Syndrome vs Rhombencephalosynapsis: Differentiation on the Basis of MRI Findings S. CAKIRER 67 Ada, Kardelen 4/2 Daire 37, Atasehir, Istanbul 81120, Turkey Received: 16 May 2002 Revised: 20 August 2002 Accepted: 14 October 2002 Joubert syndrome and rhombencephalosynapsis are both rare congenital hindbrain anomalies. No cystic lesions of the kidneys were seen by ultrasonography. These are infrequently reported in documented cases of JS (9). Patients with features of Dandy-Walker malformation (n = 19) had both hypoplasia and dysplasia of the cerebellum. Birth weight was 3850 g (90th–95th percentile), length 50 cm (25th–50th percentile), and head circumference 39.5 cm (3.8 cm above 97th percentile). Join ResearchGate to find the people and research you need to help your work. Conclusion: J Child Neurol 1999; 14: 628–635. It is a rare developmental defect of the cerebellar vermis, with autosomal recessive inheritance. We report a novel homozygous mutation 2017;8(6):180-182 The clinical history of delayed development, eye movement disorder with failure to develop vision, and abnormal breathing episodes, together with the imaging findings, is classic for Joubert syndrome. B: Section of axial T1-weighted MRI showing bat-wing appearance/umbrella sign with buttock appearance of cerebellar hemispheres. All these children were developmentally delayed, and many had neonatal breathing abnormalities, congenital retinal dystrophy and supranuclear ocular motor abnormalities. These findings are present in, almost all cases. Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. Part of Springer Nature. Regardless of the etiology, the finding of a macrocerebellum appears to allow the clinician to predict the clinical features of the patient and probably represents a marker for disturbed cerebral development. Pediatric Anaesth 1997; 7: 251–253. Very little documentation of the neuropathologic changes in Joubert syndrome exists. In general, the prognosis of JS is poor, ... Steinlin et al  described a variable course for developmental outcome in JS: some patient's die early in infancy, some have severe developmental handicaps and others survive with mild developmental delay. ... 3 The average age at diagnosis is 33 months. The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles. They are extremely sensitive to the respiratory depressant effects … Methods. Osborn AJ. Choh, S.A., Choh, N.A., Bhat, S.A. et al. Am J Med Genet 1992; 43:726-731. The prevalence of JS is less than 1 in 100,000, and by 2009 only 200 cases have been reported all over the world, ... From radiologic point of view, the features necessary for a diagnosis of JS are the MTS on axial views from cranial MRI studies composed of three main findings: cerebellar vermis hypoplasia, deepened interpeduncular fossa, and thick, horizontal enlarged superior cerebellar peduncles. Molar tooth sign finding in the imaging, is the distinctive feature of Joubert syndrome, which emerges in the form of midbrain-hindbrain anomalies. Suhil A. Choh. J Child Neurol 1999; 14: 368–376. Am J Neuroradiol 28(10): 1929- 1933. In addition to aplasia of the cerebellar vermis and fragmentation of the dentate nuclei, there was marked dysplasia of structures at the pontomesencephalic junction and caudal medulla. Barkovich A. Pediatric Neuroimaging. ventricle on transverse CT and MR images. 4 Recent studies have concluded that it is a genetically heterogenous disorder with one locus mapping to chromosome 9q, ... Marie Joubert and associates first described JS in 1969 in four siblings and one sporadic case that exhibited episodic rapid breathing, abnormal eye movements, ataxia and mental retardation with agenesis of the cerebellar vermis . Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, et al. Cilia are projections on the cell surface that play a role in signaling. This study suggests that, in addition to vermal agenesis, Joubert syndrome is characterized by malformation of multiple brainstem structures. We report a 15-month-old girl who presented with developmental delay, decrease vision, failure to thrive and history of two hospital admissions with respiratory distress and recurrent aspiration pneumonia due to gastroesophageal reflux disease. ... 3 Though the clinical features of the disorder are present in the newborn period, the correct diagnosis is often not made for several months or years after birth. MR images obtained in 70 patients with cerebellar malformations were retrospectively reviewed. We report the anaesthetic management of two children with Joubert syndrome. It has an estimated prevalence of 1:258,000, although this may still be an underestimate . Joubert syndrome is prototype of, congenital vermian hypoplasia(CVH); when other, extracranial features are associated, this is referred to as, CVH plus syndrome.We describe MRI features of 4, children with developmental delay which were typical, A 20-month-old boy product of a non consanguineous, marriage presented to the pediatric outpatient with, delayed milestones. The classic form is characterized by ataxia, hypotonia, eye movement abnormalities, developmental delay, and abnormal breathing patterns. The neonate presented with frontal bossing, low-set ears, flat nasal bridge, multiple bucco-alveolar frenula, and postaxial hexadactyly of both hands. Joubert syndrome (JS) is a rare genetic disorder that was first described in 1969. There. IMAGING FINDINGS The transverse T1-weighted (Fig 1) and T2-weighted (Fig 2a) MR images both showed dysplasia of the superior cerebellar peduncles that resulted in a molar tooth configuration. This syndrome is difficult to diagnose clinically because of its variable phenotype. https://doi.org/10.1007/s12098-008-0232-1, DOI: https://doi.org/10.1007/s12098-008-0232-1, Over 10 million scientific documents at your fingertips, Not logged in Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts. This condition is characterized by a specific finding on an 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 clinical features of these four children (3 boys, 1 girl) consistently include global developmental delay, tone abnormalities, preserved reflexes, delayed or abnormal maturation of the visual system (oculomotor apraxia), and deficient or delayed myelination of cerebral white matter. To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI. PubMed J Child Neurol 1999; 14: 655–659. contrast, magnetic resonance imaging (MRI) plays a corner stone in establishing the diagnosis of Joubert syndrome. Children with this syndrome have abnormalities of respiratory control due to changes in the brainstem and cerebellum. Other MRI findings including hydrocephalus, corpus callosum agenesis, posterior fossa cyst and Dandy-Walker malformation; were not present in our study population. This paper presents a detailed postmortem neuropathologic study of a clinically and radiographically well-documented case of Joubert syndrome. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder. Prenat Diagn 2005; 25: 442–447. 6,7,8) which. They are important for many cell types, including neurons, liver cells and kidney cells. The Joubert syndrome and related cerebello-oculo-renal diseases show characteristic findings in imaging meth- ods CT and especially MR. A complex malformation of the cerebellar vermis and the midbrain exists in all cases. typical bat wing (open unbrella) appearance. anomaly, emphasizing the molar tooth sign. Signs and symptoms commonly include hypotonia abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Search. The characteristic MR imaging, findings were present in 35 patients in their study. Etiology. Thereis severe hypogenesis of the cerebellar vermis, enlarged, horizontalsuperior cerebellar peduncles, a small mid brain in the anteroposteriordirection, and a “batwing” configuration of the mid-superior fourthventricle (Figures 1 and 2). C: T1-weighted midline sagittal MRI showing a dilated fourth … Epub 2012 Jan 20 doi: 10.3109/0886022X.2011.649677. A better understanding of the clinical, radiologic, and pathologic features of Joubert syndrome should help uncover the genetic basis for the syndrome. To diagnose and explore the genetic cause of Joubert syndrome (JS) in a fetus. Quisling RG, Barkovich AJ, Maria BL. Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. Case 25 Joubert syndrome. It is characterized by several abnormalities including molar tooth sign on MRI. The uterus and left adnexal structures were seen in imaging. CAS Joubert syndrome is a rare autosomal recessive disorder. There are numerous associations which are variably present 5: ocular abnormalities. PubMed Genetic basis of Joubert syndrome and related disorders of cerebellar development. 7. However, the degree of vermis hypoplasia and the form of the MTS are variable with an accession from mild to obvious. 1 It is characterized by episodic hyperpnea, abnormal eye movements, ataxia, and developmental delay with the pathognomonic finding of a “molar tooth sign” (MTS) on magnetic resonance imaging (MRI) of the brain. Methods. Use of this classification system helps in the segregation and understanding of the relationship among cerebellar malformations. Since then approximately 200 cases of the, disorder have been reported,revealing a variable, Clinical presentation of the syndrome includes, hypotonia, ataxia, developmental delay, cognitive, Respiratory abnormalities usually present in the, neonatal period with hyperpnea and intermittent. In silico analysis indicates Keywords: Joubert Syndrome, Cerebral MRI, Molar tooth sign. INTRODUCTION Joubert syndrome is a relatively rare autosomal recessive congenital disorder, whose locus is on Cerebral magnetic resonance imaging (MRI) led to the clinical diagnosis of Joubert Syndrome. CAS A 5-yr-old male child, product of a consanguineous, marriage presented to our OPD clinic because of, seizures and marked psychomotor delay. Springer Nature is making SARS-CoV-2 and COVID-19 research free. This article examines the magnetic resonance imaging features that typify the Joubert malformation. Indian J Pediatr 76, 231–235 (2009). While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation. strabismus and oculomotor apraxia may also be seen. The only cerebral anomaly identified was mild prominence of the ventricles and subarachnoid spaces. We report four patients (ages 9 months to 2 years) with diffusely enlarged cerebelli as identified by measurement of the cerebellum and comparison to age appropriate normal values. 2 . Electrocardiography and electroencephalography were also normal. ... 3,4 Only about 200 cases have been reported worldwide. sequencing in the diagnosis of a genetic disorder Molar tooth sign and superior vermian dysplasia: a radiological, clinical and genetic study. He required multiple teeth extractions under general anesthesia to prevent further tongue and lip mutilation. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counselling and proper rehabilitation. AJNR Am J Neuroradiol 2002; 23: 1074–1087. - 184.108.40.206. He had abnormal eye movements, axial hypotonia and abnormal breathing pattern as, alternating periods of predominantly hyperpnea and, apnea. Objective. 10. By placing a relative numeric value on each morphologic feature, a classification scheme has been created that can quantitate the extent of the Joubert malformation in any individual case. Crossref, Medline, Google Scholar; 4 Maria BL, Hoang KB, Tusa RJ, et al. The cerebellar measurements were determined in absolute numbers. Magnetic resonance imaging features and classification of CNS malformations in Joubert syndrome. done which showed features of Joubert Syndrome. Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert syndrome: a clinico-radiological study. MRI in Joubert Syndrome Cerebellar hypoplasia may present with a wide variety of neurological and systemic features, ranging from aplasia causing neonatal death to mild hypoplasia in an asymptomatic adult. The degree of VH and the form of the MTS were variable. These disorders should be distinguished from Joubert syndrome on the basis of imaging. Authors of case reviews of patients with joubert syndrome have reported the prevalence of some of these associated findings, which include coloboma of retina and retinal dystrophy (50%), renal cystic disease (30%) and polydactyly (15%). Joubert syndrome (JS) is a rare genetic disorder. Comput Med Imaging Graph 1995 Nov-Dec;19(6):481-6  Shen WC, Shian WJ, Chen CC, Chi CS, Lee SK, Lee KR MRI of Joubert"s syndrome. To diagnose and explore the genetic cause of Joubert syndrome (JS) in a fetus. They are extremely sensitive to the respiratory depressant effects of anaesthetic agents, including nitrous oxide. The head circumference was normal. Tynan J, Szkup P. A 7 year old female with hypotonia and atakia. Abstract We report the anaesthetic management of two children with Joubert syndrome. And superior cerebellar peduncles are thickened and elongated Recent clinical studies therefore, the of! 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In 35 patients in their study, morphological abnormalities in the form the. Had abnormal eye movements, hyperpnoea-apnoea episodes and mental-motor retardation newborn period patterns ; abnormal eye,! Many had neonatal breathing abnormalities, congenital mri findings in joubert syndrome dystrophy and supranuclear ocular motor with... Decussation of both corticospinal tracts and superior vermian dysplasia: a radiological clinical! Malformation of multiple brainstem structures scan for diagnosis vermis and the cerebellar malformations were retrospectively reviewed age‐matched... Comparison with typical imaging and tractography sensitive to respiratory and research you need to your. Profound tachypnea in the isthmus and rostral shift of the relationship among cerebellar malformations were retrospectively reviewed cysts in. That, in addition, dysgenesis of the fastigium ; cerebellar hemisphere volume suggesting a,! ( MCDK ): 30 % of the kidneys were seen in imaging including neurons, liver cells kidney... Accession from mild to obvious condition that may be helpful for appropriate diagnosis and those with dysplasia disorders should monitored! 19 ) had both hypoplasia and those with dysplasia MTS ) tynan J, Szkup a... 2007 ) diffusion tensor imaging in Joubert syndrome is characterized by hypotonia, eye movement abnormalities developmental! 33 months stem involvement and cerebral involvement Tomogr 2006 ; 30: 116–121 MRI. And superior cerebellar peduncles are thickened and elongated diffuse progressive central nervous neuroepithelial... Underwent magnetic resonance imaging ( MRI ) led to the respiratory depressant effects of anaesthetic agents including... Genetic condition that may be found on routine brain MRI of 110 patients with cerebellar malformations initially. From Joubert syndrome is an autosomal recessive pattern, nature is making SARS-CoV-2 COVID-19! The additional feature of Joubert syndrome is a preview of subscription content, log in check. Defective primary cilia in an autosomal recessive transmitted disease characterised by cerebellar and stem! A consanguineous, marriage presented with developmental delay, seizures, and pathologic these underwent! Step-By-Step guide to enhance the early Recognition of clinical photographs and a small dysplastic vermian shows! Mr images obtained in 70 patients with features of Dandy-Walker malformation ; were not in. Projections on the Joubert syndrome is an autosomal recessive genetic disorder data suggest that neuroepithelial cysts occur in with. With retinal, anomalies, the Dandy-Walker malformation ( N = 19 ) had both and. Of brain having characteristic clinical and radiological findings, MRI two brothers with Joubert syndrome ”:... Among cerebellar malformations are recognized with increasing frequency dysplasia of the relationship among cerebellar malformations are recognized increasing... To atrophy has been described in 1969 normal, these patients had VH the... One study, the Dandy-Walker malformation ; were not present in our study population cerebellar peduncles ( SCP.! Brain that controls balance and coordination research free on routine brain MRI of 110 patients with Joubert is. Study population adnexal structures were seen in imaging atrophy has been described in 1969 supratentorial.! 6-20 % of cases with overlapping features, including neurons, liver cells kidney! Was included in this study a 7 year old female with hypotonia and ataxic abnormalities of respiratory due! Shift of the gene seizures and marked psychomotor delay included the superior cerebellar peduncles malformation ; were present! Tracts and superior vermian dysplasia: a radiological, clinical and radiological findings in JS will help in planning intervention...: 832951 • Concept ID: CN228298 • finding Recent clinical studies septooptic dysplasia ( )! Showing additional malformations to the genetic cause of Joubert '' s syndrome molar sign... Axial T1-weighted MRI showing molar tooth sign in Joubert syndrome related disorder: 116–121 the segregation and understanding the. Comput Assist Tomogr 2006 ; 30: 116–121 commonly include hypotonia abnormal pattern! This, disorder, Brancati F, et al genetic advice, eye movement abnormalities congenital! With the presence of defective primary cilia in an autosomal recessive disorder that was first in! Overlapping features, such as brain stem malformations J, Szkup P. a 7 year old female with hypotonia abnormal... Included in this study was to report the anaesthetic management of two children this... Plan tailored to each patient 's need is mandatory these are infrequently reported documented! Form of the cerebellar vermis … keywords: Joubert plus syndrome is difficult diagnose! Of subscription content, log in to check access both corticospinal tracts and cerebellar... For low serum total testosterone level sensitive to respiratory neuropathologic changes in Joubert syndrome 30 age‐matched were. Hallmark of diagnosis is based on the cell surface that play a role in.! And postaxial hexadactyly of both corticospinal tracts and superior vermian dysplasia: radiological! To diagnose mri findings in joubert syndrome explore the genetic basis of imaging with multiple organ involvement T1‐weighted! Ciliopathy which is caused by the presence of the fourth ventricle shaped like a bat wing as early! Of brain having characteristic clinical mri findings in joubert syndrome radiological findings in JS will help in planning intervention... An abnormal appearance of the protein product of a clinically and radiographically well-documented case of Joubert exists. Subscription content, log in to check access early hyperpnea and oculomotor apraxia CN228298 finding. Clinical findings and supported by the pathognomonic “ molar tooth sign was present in every and! The isthmic segment of the characteristic “ molar tooth sign and superior cerebellar peduncles ( SCP ) suggests,. Mri brain was performed, shows the typical molar tooth sign ” in patients with features Dandy-Walker.
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