Entrez PubMed Two brothers with motor retardation since the first months of life presentedwaddling ataxicgait wi http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3
Webkatalog Webkatalog des Fit Gesundbereichs http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Birth Disorder Information Directory - A Agammaglobulinemia. List of Sites Agenesis of the Cerebellar Vermis. List of Sites Agenesis of the Corpus Callosum. List of Sites. Related Books http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Agenesis Of The Cerebellar Vermis Agenesis of the Cerebellar Vermis. Familial Agenesis of the Cerebellar Vermis. Agenesis of the Cerebellar Vermis http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Syndroom Van Joubert Syndroom van Joubert. Synoniemen cerebellar vermis agenesis Hypernea EpisodicEyeMoves-Ataxia-Retardation Cerebellar Vermis Aplasia http://www.erfelijkheid.nl/zena/joube.php
BBC - Health - Conditions - Joubert Syndrome Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Joubert's Syndrome (www.whonamedit.com) Synonym familial cerebellar vermis agenesis. Associated persons Familialagenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, http://www.whonamedit.com/synd.cfm/2702.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A rare familial syndrome characterised by episodic panting in the newborn and jerky eye movements in the neonatal period with later the development of mental retardation, cerebellar ataxia and episodic hyperpnoea with hyperventilation. Pathological features are brainstem malformation and agenesis of the vermis of the cerebellum. Both sexes affected, onset in early infancy. Mast patients die in infancy or early childhood. The syndrome is believed to be transmitted as an autosomal recessive trait. Etiology unknown.
Joubert Syndrome - Patient UK familial cerebellar vermis agenesis; cerebellooculorenal syndrome 1. Joubert M et al; Familial agenesis of the cerebellar vermis. http://www.patient.co.uk/showdoc/40001737/
Extractions: PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Synonyms: Joubert-Boltshauser syndrome; cerebelloparenchymal disorder IV; familial cerebellar vermis agenesis; cerebellooculorenal syndrome 1. A rare familial syndrome characterised by absence or malformation of the cerebellar vermis. Transmitted as an autosomal recessive trait (genetic heterogeneity - chromosome 9 is a possible candidate). Presentation Onset is in early infancy with abnormally rapid breathing , jerky eye movements, mental retardation , hemifacial spasms, seizures and ataxia. Abnormal behaviour, including self-mutilation, may develop. Signs A range of physical deformities may be present and these include chorioretinal coloboma and retinal dysplasia, tongue protrusion, polydactyly and hypotonia. Investigations MRI findings include dilated cisterna magna, Occipital meningoencephalocele, Dandy-Walker malformation, hypoplasia of the corpus callosum, retrobulbar cystic mass. Abdominal ultrasound may show cystic kidneys. Management Treatment is symptomatic and supportive and will include physiotherapy, occupational and speech therapy. The parents will need a great deal of support.
Health - Conditions And Diseases - C Auditory Processing Disorders@ (21) Central Pontine Myelinolysis@ (2) Cerebellar Diseases@ (4) cerebellar vermis agenesis@ (7) Cerebral http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
ThirdAid.com - The World S First Dedicated Online Patient To (Kidneys, CysticRetinal Aplasia Joubert Syndrome , Vermis Cerebellar Agenesis Cerebelloparenchymal Disorder IV Familial , cerebellar vermis agenesis, http://www.thirdaid.com/index/qfm/fuseaction/registrationStep3/letter/J
213300 JOUBERT SYNDROME 1; JBTS1 CEREBELLOPARENCHYMAL DISORDER IV CPD IV cerebellar vermis agenesis, INCLUDEDCEREBELLOOCULORENAL SYNDROME 1, INCLUDED; CORS1, INCLUDED http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:213300] -e
Agenesis Of Cerebellar Vermis Agenesis of Cerebellar Vermis. This response submitted by SHaron Gretz on 9/15/96 . He has agenesis of the vermis, and agenesis of the left cerebellar http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/Agenesiso
Extractions: This response submitted by SHaron Gretz on 9/15/96. Author's Email: Sharong@nauticom.net I am very interested in hearing more about how it was that your son got diagnosed. I am also fairly confused by your use of the term Cerebral Palsy in reference to your son's cerebellar malformation. My son is five years old. He has agenesis of the vermis, and agenesis of the left cerebellar hemisphere and hypoplasia of the right hemisphere. Basically he has very little cerebelllum. Never has anyone ever put this neuroanatomy together with cerebral palsy. It is not a fit. Please contact me I would love to learn more. Also, have they ruled out Dandy Walker Malformation or Dandy Walker variant? Typically this is the diagnosis in cases of cerebellar vermal hypoplasia or agenesis. Sincerely, Sharon Gretz
Birth Disorder Information Directory - CA-CL cerebellar vermis agenesis. See JoubertBoltshauser Syndrome. Cerebellar VermisHypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, http://www.bdid.com/defectca.htm
Extractions: HOME C Syndrome (Opitz Trigonocephaly Syndrome) C-II Anapolipoproteinemia CADASIL Caffey Disease (Infantile Cortical Hyperostosis) Cahmr Syndrome (Cataract Hypertrichosis Mental Retardation) Calcinosis Raynaud Phenomenon with Sclerodactyly and Telangiectasis Calderon Gonzalez Cantu Syndrome (Hair Defect Photosensitivity Mental Retardation) Calloso Genital Dysplasia Callus Disease Calpainopathy Calvarial Hyperostosis Camera Lituania Cohen Syndrome (Genes Syndrome, Genoa Syndrome, Holoprosencephaly Craniosynostosis) camera lituania cohen syndrome HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
