Joubert's syndrome is a rare condition in which the middle part of the cerebellum (the vermis) doesn't properly form . The cerebellum helps regulate dynamic musclular activities such as dancing or playing musical instruments or complex movements of the tongue and vocal muscles. Below are the results of a recent survey of the scientific literature on subject to October 2000.
A literature search at Indiana University, Bloomington, Indiana
The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. (See SilverPlatter's Worldwide Library for bibliographic search information.)
TITLE: Joubert's syndrome and prenatal hydrocephalus.
AUTHOR(S): Anderson-JS; Gorey-MT; Pasternak-JF; Trommer-BL
ADDRESS OF AUTHOR: Northwestern University School of Medicine, and Division of Neuroradiology, Evanston Hospital, Illinois 60201, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1999 May; 20(5): 403-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus.
MINOR MESH HEADINGS: Brain-pathology; Hydrocephalus-complications; Hydrocephalus-diagnosis; Infant,-Newborn; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Hydrocephalus-; *Prenatal-Diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999297801
UPDATE CODE: 199911
Record 2 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Joubert's syndrome: new cases and review of clinicopathologic correlation.
AUTHOR(S): Sztriha-L; Al-Gazali-LI; Aithala-GR; Nork-M
ADDRESS OF AUTHOR: Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1999 Apr; 20(4): 274-81
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The authors report on seven patients, six males and one female, with Joubert's syndrome who underwent developmental evaluation, neurologic and ophthalmologic examinations, and magnetic resonance imaging of the brain. All patients had severe developmental delay, hypotonia, impairment of smooth visual pursuit, and saccadic eye movements. Six had jerky eye movements and ptosis was observed in two patients and retinal dystrophy in one. The posterior lobe of the vermis was absent in all patients and the small rudimentary anterior lobe lacked fusion in the midline, with cleft formation in five patients. Malformation of the pontomesencephalic junction, with prominent superior cerebellar peduncles and deep interpeduncular fossa, was observed in all patients. Abnormal cerebellar-brainstem and cerebellocortical connections because of the lack of the posterior vermis and dysplasia of the deep cerebellar nuclei might be responsible for the abnormal eye movements and retarded development in Joubert's syndrome. Correlation between radiologic findings and clinical symptoms and the possible role of abnormal patterning of the midbrain-hindbrain by homeotic genes during embryonic development are reviewed.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Consanguinity-; Developmental-Disabilities-diagnosis; Genes,-Homeobox-genetics; Infant-; Magnetic-Resonance-Imaging; Mesencephalon-embryology; Ocular-Motility-Disorders-genetics; Ocular-Motility-Disorders-physiopathology; Rhombencephalon-embryology; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Brain-abnormalities; *Brain-Diseases-diagnosis; *Brain-Diseases-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999258828
UPDATE CODE: 199909
Record 3 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome.
AUTHOR(S): Ni-Scanaill-S; Crowley-P; Hogan-M; Stuart-B
ADDRESS OF AUTHOR: Ultrasound Department, Coombe Women's Hospital, Dublin, Ireland.
SOURCE (BIBLIOGRAPHIC CITATION): Ultrasound-Obstet-Gynecol. 1999 Jan; 13(1): 71-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0960-7692
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Joubert's syndrome is a well-documented but rare disorder characterized by a variable combination of central nervous system, respiratory, renal and eye anomalies. The most significant and constant neuropathological finding is partial or complete agenesis of the cerebellar vermis. The syndrome was first described by Joubert and colleagues as a familial agenesis of the cerebellar vermis and appears to be inherited as an autosomal recessive trait. A case of Joubert's syndrome is described in which second-trimester ultrasonography demonstrated abnormal findings in the fetal posterior fossa with associated renal abnormalities. However, postnatal sonography of the posterior fossa could not confirm the prenatal findings, and the diagnosis of Joubert's syndrome was only later established by computed tomography of the neonatal brain in the knowledge of the characteristic clinical picture.
MINOR MESH HEADINGS: Abnormalities,-Multiple-radiography; Adult-; Cerebellum-abnormalities; Cerebellum-radiography; Cranial-Fossa,-Posterior-radiography; Cranial-Fossa,-Posterior-ultrasonography; Diagnosis,-Differential; Echoencephalography-; Eye-Abnormalities-radiography; Follow-Up-Studies; Infant,-Newborn; Kidney,-Polycystic-radiography; Pregnancy-; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-ultrasonography; *Cerebellum-ultrasonography; *Cranial-Fossa,-Posterior-abnormalities; *Eye-Abnormalities-ultrasonography; *Kidney,-Polycystic-ultrasonography; *Ultrasonography,-Prenatal
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999217148
UPDATE CODE: 199908
Record 4 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: Cranial sonographic findings in Joubert's syndrome.
AUTHOR(S): al-Talabani-JA; Shubbar-AI; Sobkey-E
ADDRESS OF AUTHOR: Good Hope Hospital NHS Trust, Sutton Coldfield, West Midlands, United Kingdom.
SOURCE (BIBLIOGRAPHIC CITATION): J-Clin-Ultrasound. 1999 Jan; 27(1): 41-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0091-2751
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonographic findings in 2 children with Joubert's syndrome from 2 families. Two children in the first family and 6 children in the second family were affected by Joubert's syndrome. To our knowledge, cranial sonographic findings in this syndrome have not been described before.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-radiography; Cerebellum-radiography; Child,-Preschool; Follow-Up-Studies; Infant,-Newborn; Skull-radiography; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-ultrasonography; *Cerebellum-abnormalities; *Cerebellum-ultrasonography; *Skull-ultrasonography
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 1999105045
UPDATE CODE: 199905
Record 5 of 15 in MEDLINE EXPRESS (R) 1999/01-1999/10
TITLE: A patient with ectodermal dysplasia, Joubert's syndrome, and brain cysts.
AUTHOR(S): Nuri-Sener-R
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey. rnsener@med.ege.edu.tr
SOURCE (BIBLIOGRAPHIC CITATION): Comput-Med-Imaging-Graph. 1998 Jul-Aug; 22(4): 349-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-6111
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A patient with ectodermal dysplasia, Joubert's syndrome, and cerebral cysts is reported. The combination of these findings suggested a disorder of the embryonic ectoderm, manifesting as a neurocutaneous syndrome.
MINOR MESH HEADINGS: Brain-Diseases-radiography; Cerebellum-radiography; Child,-Preschool; Cysts-radiography; Ectoderm-; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-Diseases-complications; *Cerebellum-abnormalities; *Cysts-complications; *Ectodermal-Dysplasia-complications; *Mental-Retardation-pathology; *Muscle-Hypotonia-pathology; *Respiration-Disorders-pathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1999054401
UPDATE CODE: 199904
Record 6 of 15 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Cytomegalovirus infection and Joubert's syndrome.
AUTHOR(S): Sener-RN
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Comput-Med-Imaging-Graph. 1997 Jan-Feb; 21(1): 67-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-6111
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A patient with serologically proven congenital cytomegalovirus (CMV) infection is described with periventricular calcifications on CT. The condition was associated with the typical cerebellar changes of clinicoradiologically proven Joubert's syndrome. Although this may be a chance association only, the condition raised the question if an early intrauterine CMV infection, which affects the cerebellum, may contribute to the occurrence of Joubert's syndrome.
MINOR MESH HEADINGS: Calcinosis-radiography; Cerebellar-Diseases-diagnosis; Cytomegalovirus-Infections-diagnosis; Infant-; Mental-Retardation-etiology; Serologic-Tests; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Cerebellar-Diseases-congenital; *Cerebellum-abnormalities; *Cytomegalovirus-Infections-congenital
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997227214
UPDATE CODE: 199706
Record 7 of 15 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Cerebellar vermian clefts disconnecting the hemispheres: a different entity unassociated with Joubert's syndrome.
AUTHOR(S): Sener-RN
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Comput-Med-Imaging-Graph. 1997 Jan-Feb; 21(1): 71-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-6111
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: In the consecutive evaluation of 3000 cranial MR imaging and CT examinations in pediatric patients we found 13 patients with cerebellar vermian clefts. Three of these belonged to asymptomatic patients, and 10 to those with Joubert's syndrome. Although, the only known condition associated with a developmental cleft in the cerebellar vermis is the Joubert's syndrome, the MR imaging findings in the three asymptomatic patients with complete vermian clefts disconnecting the two hemispheres suggested that this represents a distinct entity of a "vermian defect", which presents as a single lesion in a sporadic fashion with a frequency of 0.1%.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Infant-; Magnetic-Resonance-Imaging; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Cerebellar-Diseases-diagnosis; *Cerebellum-abnormalities
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997227215
UPDATE CODE: 199706
Record 8 of 15 in MEDLINE EXPRESS (R) 1996-1998
TITLE: [Joubert's syndrome: computerized tomography and magnetic resonance tomography]
ORIGINAL TITLE: Das Joubert-Syndrom im Computertomogramm und Magnetresonanztomogramm.
AUTHOR(S): Hentschel-F; Marcus-A; Klein-M; Schmidt-MH
ADDRESS OF AUTHOR: Abteilung Neuroradiologie, Zentralinstitutes fur Seelische Gesundheit, Mannheim.
SOURCE (BIBLIOGRAPHIC CITATION): Rofo-Fortschr-Geb-Rontgenstr-Neuen-Bildgeb-Verfahr. 1996 Aug; 165(2): 210-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0936-6652
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
MINOR MESH HEADINGS: Cerebellum-radiography; Child-; Diagnosis,-Differential; Mental-Retardation-diagnosis; Syndrome-
MAJOR MeSH HEADINGS: *Cerebellum-abnormalities; *Magnetic-Resonance-Imaging; *Mental-Retardation; *Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1996412602
UPDATE CODE: 199701
Record 9 of 15 in MEDLINE EXPRESS (R) 1993-1995
TITLE: MR imaging of Joubert's syndrome.
AUTHOR(S): Sener-RN
ADDRESS OF AUTHOR: Department of Radiology, Ege University Hospital Bornova, Izmir, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Comput-Med-Imaging-Graph. 1995 Nov-Dec; 19(6): 481-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-6111
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six males, three females; ages ranging from 2.5 to 9 yrs), and describes MR imaging findings in seven of these. Besides the previously described characteristic and relatively common changes of the syndrome, the MR imaging findings in these patients revealed thinned optic tracts, enlarged temporal horns in the absence of hydrocephalus, high-signal of the cerebral periventricular white matter, abnormal signal in the decussation of the superior cerebellar peduncles, and abnormal embryonic vessels associated with the dysplastic folia of the cerebellar hemispheres.
MINOR MESH HEADINGS: Apnea-pathology; Cerebellar-Diseases-pathology; Cerebellum-pathology; Cerebral-Ventricles-pathology; Child-; Child,-Preschool; Corpus-Callosum-abnormalities; Corpus-Callosum-pathology; Eye-Movements; Hydrocephalus-; Mental-Retardation-pathology; Mesencephalon-abnormalities; Mesencephalon-pathology; Optic-Nerve-Diseases-pathology; Pons-abnormalities; Pons-pathology; Respiration-Disorders-pathology; Syndrome-; Temporal-Lobe-pathology
MAJOR MeSH HEADINGS: *Cerebellum-abnormalities; *Magnetic-Resonance-Imaging
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1996389876
UPDATE CODE: 199701
Record 10 of 15 in MEDLINE EXPRESS (R) 1993-1995
TITLE: MRI of Joubert's syndrome.
AUTHOR(S): Shen-WC; Shian-WJ; Chen-CC; Chi-CS; Lee-SK; Lee-KR
ADDRESS OF AUTHOR: Department of Radiology, Taichung Veterans General Hospital, Taiwan, ROC.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Radiol. 1994 Feb; 18(1): 30-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0720-048X
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: OBJECTIVE: To report five cases of the rare Joubert's syndrome. SUBJECTS: All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus. RESULTS: The T1WI of MRI showed characteristic MRI features of Joubert's syndrome including dilatation of the fourth ventricle with some appearing bat-wing shaped, elongation and stretching of the superior cerebellar peduncles, dysphasia of the vermis, widening of the foramen of Magendie and the posterior cistern. One case was associated with encephalomeningocele. CONCLUSIONS: MRI can provide characteristic findings of Joubert's syndrome and confirm the clinical diagnosis.
MINOR MESH HEADINGS: Brain-pathology; Child,-Preschool; Infant-; Infant,-Newborn; Syndrome-
MAJOR MeSH HEADINGS: *Cerebellum-abnormalities; *Developmental-Disabilities; *Eye-Diseases; *Magnetic-Resonance-Imaging; *Respiration-Disorders
CHECKTAGS: Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994222140
UPDATE CODE: 199408
Record 11 of 15 in MEDLINE EXPRESS (R) 1993-1995
TITLE: [Joubert syndrome]
ORIGINAL TITLE: Le syndrome de Joubert.
AUTHOR(S): De-Jonghe-M; Schroell-M; Degremont-Weitzel-C
ADDRESS OF AUTHOR: Centre Hospitalier, Clinique Pediatrique, Neonatologie, Luxembourg.
SOURCE (BIBLIOGRAPHIC CITATION): Bull-Soc-Sci-Med-Grand-Duche-Luxemb. 1994; 131(2): 19-23
INTERNATIONAL STANDARD SERIAL NUMBER: 0037-9247
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: LUXEMBOURG
ABSTRACT: Joubert's syndrome is clinically characterized by attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, psychomotor retardation, and ataxia. Anatomic anomalies include cerebellar vermis agenesis with dilatation of the fourth ventricle. It is an autosomal recessive disorder; onset is in the neonatal period and prognosis is severe.
MINOR MESH HEADINGS: Cerebellum-pathology; English-Abstract; Infant-; Mental-Retardation; Syndrome-
MAJOR MeSH HEADINGS: *Cerebellar-Ataxia-pathology; *Cerebellum-abnormalities; *Ocular-Motility-Disorders-pathology; *Respiration-Disorders-pathology
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1995120870
UPDATE CODE: 199504
Record 12 of 15 in MEDLINE EXPRESS (R) 1993-1995
TITLE: MRI in cerebellar hypoplasia.
AUTHOR(S): deSouza-N; Chaudhuri-R; Bingham-J; Cox-T
ADDRESS OF AUTHOR: Department of Magnetic Resonance, Guys' Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Neuroradiology. 1994; 36(2): 148-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3940
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: 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. MRI clearly documents the size of the cerebellum and any associated abnormalities. We describe 7 cases of cerebellar hypoplasia of varying aetiology--3 inherited, 2 associated with spinal dysraphism, 1 with Joubert's syndrome and 1 with pontine agenesis, probably as a result of basilar artery infarction in utero. T1- and T2-weighted images were obtained in each case and gadolinium-DTPA was administered in one. Associated features such as a Chiari malformation (2 cases), brain stem hypoplasia (2 cases), Dandy-Walker cyst and pachygyria (3 cases) and spinal dysraphism (2 cases) were clearly identified. Accurate documentation of these appearances assists in genetic counselling.
MINOR MESH HEADINGS: Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Cerebellum-abnormalities; *Cerebellum-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994239636
UPDATE CODE: 199408
Record 13 of 15 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Orofaciodigital syndrome type III in two sibs.
AUTHOR(S): Smith-RA; Gardner-Medwin-D
ADDRESS OF AUTHOR: Department of Paediatric Neurology, Newcastle General Hospital, Newcastle upon Tyne, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1993 Oct; 30(10): 870-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert's syndrome is discussed. If OFD III syndrome is to be recognised as a distinct entity, these two cases represent the second and third cases reported.
MINOR MESH HEADINGS: Child-; Dandy-Walker-Syndrome-pathology; Infant,-Newborn; Nystagmus-congenital; Orofaciodigital-Syndromes-classification; Polydactyly-
MAJOR MeSH HEADINGS: *Orofaciodigital-Syndromes-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1994047017
UPDATE CODE: 199402
Record 14 of 15 in MEDLINE EXPRESS (R) 1993-1995
TITLE: Magnetic resonance imaging of normal and abnormal brain development.
AUTHOR(S): Barkovich-AJ; Maroldo-TV
ADDRESS OF AUTHOR: Department of Radiology, University of Carlifornia, San Francisco.
SOURCE (BIBLIOGRAPHIC CITATION): Top-Magn-Reson-Imaging. 1993 Spring; 5(2): 96-122
INTERNATIONAL STANDARD SERIAL NUMBER: 0899-3459
PUBLICATION YEAR: 1993
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Magnetic resonance imaging (MRI) improves our ability to assess brain development and to detect anomalies of brain formation. MRI allows the assessment of brain development by analysis of the effects of myelination on the T1 and T2 relaxation times of the pediatric brain. This article discusses specific imaging strategies and the normal progression of signal intensity changes. Familiarity with this evolution of signal changes allows an estimation of the approximate stage of brain development. High-resolution multiplanar MRI provides good anatomic detail, with excellent distinction between gray and white matter. This technique allows improved detection of many classes of abnormalities of brain formation, some of which were previously detectable only at autopsy. These malformations and their imaging characteristics are discussed under the headings of: corpus callosal dysgenesis, intracranial lipomas, holoprosencephalies, septooptic dysplasia, the cephaloceles, the Chiari malformations, the Dandy-Walker complex, the cerebellar anomalies including Joubert's syndrome, and rhombencephalosynapsis, and the spectrum of neuronal migration anomalies.
MINOR MESH HEADINGS: Brain-pathology; Brain-Diseases-pathology; Corpus-Callosum-pathology; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-growth-and-development
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 1993349505
UPDATE CODE: 199311
Record 15 of 15 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A case of Joubert's syndrome with extensive cerebral malformations.
AUTHOR(S): ten-Donkelaar-HJ; Hoevenaars-F; Wesseling-P
ADDRESS OF AUTHOR: Department of Neurology, University Hospital Nijmegen, The Netherlands.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Neuropathol. 2000 Mar-Apr; 19(2): 85-93
INTERNATIONAL STANDARD SERIAL NUMBER: 0722-5091
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Joubert's syndrome is a relatively rare, autosomal-recessive syndrome defined by vermis hypoplasia, hypotonia, developmental delay and at least one of two additional manifestations: abnormal breathing pattern or abnormal eye movements. Detailed descriptions of the neuropathological findings in this syndrome are scarce. We present a radiological and pathological correlation of a case of Joubert's syndrome in which, apart from the classic vermis aplasia and some malformations of the brain stem and the spinal cord, extensive malformations of the cerebrum were found. The dentate nuclei were broken into islands and showed a few heterotopias within the superior cerebellar pedunculi, the inferior olives were plump and dysplastic, and an almost complete absence of the pyramidal decussation was found. In the spinal cord, the dorsal columns were located in a dorsal position within the spinal grey matter. In the cerebrum, absence of the corpus callosum was found. Many nodular heterotopias of the cerebral cortex and of the basal ganglia, the amygdala and the diencephalon were observed. The present case is compared to previous pathological descriptions of the Joubert syndrome and to other syndromes with comparable malformations of the posterior fossa.
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Brain-pathology; Child,-Preschool; Chromosome-Abnormalities-genetics; Developmental-Disabilities-genetics; Follow-Up-Studies; Genes,-Recessive-genetics; Infant-; Infant,-Newborn; Spinal-Cord-abnormalities; Spinal-Cord-pathology; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-pathology; *Brain-abnormalities; *Developmental-Disabilities-pathology; *Respiratory-Sounds-physiology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20210860
UPDATE CODE: 200008