Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Ramaekers, V T. Articles by Wanders, R J A Arch Dis Child 231-234 ( September ) V Th Ramaekers, a B Bosman, a G A Jansen, b R J A Wanders b a Department of Paediatrics, University Hospital Aachen, Germany, b Department of Paediatrics and Clinical Biochemistry, University Hospital Amsterdam, The Netherlands
Agenesis Of The Vermis Here is a list of responses that have been posted to this article agenesis ofCerebellar vermis (9/15/96) 142 PM http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/Agenesiso
OBGYN.net - OBGYN.net Ultrasound - January 1999 Case Of The Month from an increased indentation of the cerebellar vermis to complete agenesisof the vermis with a deep cleft between the hemispheres of the cerebellum. http://www.obgyn.net/us/us.asp?page=/us/cotm/9901/cotm_9901
Indian Pediatrics - Editorial Unilateral cerebellar hypoplasia has also been described in Aicardis Syndrome(9) . callosal agenesis, ocular abnormalities A new syndrome. http://www.indianpediatrics.net/may2000/may-542-545.htm
Extractions: Revision Accepted: November 19, 1999 In 1965, Aicardi and colleagues reported a new syndrome characterized by agenesis of corpus callosum (ACC) with cortical heterotopia, infantile spasm, chorioretinopathy, mental retardation with or without associated vertebral anomalies. Amongst these, ACC, infantile spasms, mental retardation and chorioretinal lacunae are the constant findings(1). It is a rare neuro-ophthalmic disorder with progressive mental deterioration. All the patients described till date have been females except two male subjects(2,3). We describe a male baby who had all the essential features suggestive of Aicardis Syndrome along with ventricular septal defect and lissencephaly.
Dandy Walker Malformation consisting of a triad of abnormalities; complete or partial agenesis of thecerebellar vermis, cystic dilatation of the fourth ventricle, http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/DANDY WALKER MA
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Dandy walker malformation, In classical Dandy-Walker malformation hydrocephalus is considered a complication rather than part of the malformation and though unusual at birth it is present in 75% of patients by 3 months of age and in 90% of patients at the time of diagnosis. The malformation occurs in 1 per 25,000-30,000 births. Walker Warburg syndrome , Dekaban syndrome, cerebro-oculo-muscular syndrome and vermian hypoplasia with colobomata and hepatic fibrosis.Those genetic syndromes in which vermian agenesis is an occasional feature include Meckel-Gruber, Mohr, orofacial digital syndrome type II, Coffin Siris syndrome Smith Lemli Opitz syndrome Ellis van Creveld syndrome Ruvalcaba Myhere Smith syndrome .Other non-Mendelian syndromes in which vermian agenesis may be a feature include Dandy-Walker cyst wi
Journal Of Pediatric Hematology Oncology - UserLogin An 18month-old girl with agenesis of the corpus callosum, hypoplasia of thecerebellar vermis, hypotonia, and severe developmental delay presented with http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200110000-00016.htm
The American Journal Of Forensic Medicine And Pathology - UserLogin The DandyWalker malformation is an apparent agenesis of the cerebellar vermiswith preservation of the hemispheres and the presence of a cyst that http://www.amjforensicmedicine.com/pt/re/ajfmp/fulltext.00000433-200006000-00013
Extractions: Abstract Rhombencephalosynapsis is a rare posterior fossa malformation characterized by the absence of vermis and midline fusion of both cerebellar hemispheres. We report a live case of rhombencephalosynapsis diagnosed on Computed Tomography in a two months old boy, associated with other supra-tentorial anomalies. This case becomes unique in the aspect that it is the first case diagnosed on CT, as previous all cases were diagnosed on Magnetic Resonance imaging and antenatal Ultrasound. Case report A two-month-old boy presented to the pediatric OPD with difficulty in suckling since birth hence instead of breast-feeding, he was top fed with a spoon. Perinatal History: The parents had a non-consanguineous marriage. The boy had a brother who was two and half years old and did not have any obvious congenital anomaly. The mother was an unregistered antenatal case who did not undergo any ultrasound screening during pregnancy. The baby was a full term normally delivered child with a normal apgar score. Physical examination revealed: Craniosynostosis with fused sagittal suture, the anterior fontanelle was open. The suckling reflex was absent. No other obvious congenital anomalies were seen. The baby was advised a transcranial ultrasound, which showed the absence of the corpus callosum, and septum pellucidum, ventriculomegaly and a small posterior cranial fossa. Computed Tomography (CT) of the brain was advised to evaluate the cause of ventriculomegaly.
Extractions: What is Joubert Syndrome? Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem. The most common features of the disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. We are celebrating our 13th year of providing information about the disorder to families all over the world! syndrome, joubert syndrome, joubert, joubert disease, joubert's syndrome, jobair syndrome, what is joubert syndrome, jobert, jouberts, joubert syndrome treatment, joubert syndrome prognosis, joubert syndrome research, cerebellum, cerebellar, Arima, Dekaban, Senior-Loken, Varadi, COACH, cerebellar hypoplasia
Other Images cystic dilatation of the 4th ventricle; complete of partial agenesis of thecerebellar vermis; hydrocephalus (which may occur late) http://www.adhb.govt.nz/newborn/TeachingResources/Radiology/HUSS/NeonatalOtherHU
Extractions: Isolated Frontal Horn Paraventricular Cysts Lenticulostriate Vasculopathy Hydrocephalus Vein of Galen Malformation ... Cytomegalovirus Click on images to view larger images These lesions are not common but can cause significant concern for clinical staff and parents. Typically they occur in the frontal lobes, lateral to the ventricles in a more inferior position to that seen with periventricular leukomalacia . There are no consistently identified predisposing factors. They are usually present within the first week, detected on screening ultrasound scan in those infants born prematurely. They may enlarge over time but commonly regress within a few months of birth. They are not associated with long-term neurodevelopmental sequelae. Reference: Pal BR, Preston PR, Morgan MEI, Rushton RI, Durbin GM. Frontal horn thin walled Click on images to view larger images Lenticulostriate vasculopathy (previously termed "mineralising vasculopathy") occurs in 0.4% of all liveborn neonates, and in a higher proportion (up to 5.8%) of ill infants. It is characterised by demonstration of linear, branching or punctate lesions associated with arteries in the thalamus and basal ganglia. It is bilateral in approximately half the cases detected. In the images to the left, linear opacities are seen in the basal ganglia.
Joubert Syndrome Joubert syndrome. Cerebelloparenchymal Disorder IV, CPD IV, cerebellar VermisAgenesis, JoubertBoltshauser Syndrome http://www.kumc.edu/gec/support/joubert.html
Extractions: trisomie 18 www.erfelijkheid.nl/zena/edwar.php - 12 aug 2003 Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie www.erfelijkheid.nl/zena/ehler.php - 12 aug 2003 Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie www.erfocentrum.nl/zena/gilbe.php - 14 aug 2003 Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Synoniem: 11q-deletie www.erfocentrum.nl/zena/jacob.php - 14 aug 2003 Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Het syndroom van Jervell-Lange-Nielsen is een zeldzame vorm van het Lange QT-tijd syndroom (LQTS), dat gepaard gaat met aangeboren doofheid. www.erfocentrum.nl/zena/jerve.php - 14 aug 2003
