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Joubert Syndrome: more detail

Genodermatoses: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome

Shannadoah: A Journey of Discovery About Dandy Walker, Joubert Syndrome, Helpful Resources and More by Shelley Boulet, 2003-04

The Official Parent's Sourcebook on Joubert Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30

Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Kevin, MS, CGC Sweet, 2005

Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Kevin, MS, CGC Sweet, Rosalyn, MD Carson-DeWitt, 2005

Malformation Du Système Nerveux: Spina Bifida, Lissencéphalie, Malformations Congénitales Du Système Nerveux Central, Syndrome de Joubert (French Edition)

Fibrocystic Diseases of the Liver (Clinical Gastroenterology)

lists with details

Joubert Syndrome
joubert syndrome Guide picks. NINDS joubert syndrome Information on the syndromefrom the National Institute for Neurological Disorders and Stroke.
http://rarediseases.about.com/cs/joubertsyndrome/
NINDS Joubert Syndrome Information Page
joubert syndrome information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). NINDS joubert syndrome Information Page.
http://accessible.ninds.nih.gov/health_and_medical/disorders/joubert.htm

Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us NINDS Joubert Syndrome Information Page Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features 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. There may be mild or moderate retardation.
Health Library - Joubert Syndrome
joubert syndrome. Cerebellarparenchymal Disorder IV; CerebelloparenchymalDisorder IV Familial; Chorireninal Colobomajoubert syndrome;
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
Health Library - Joubert Syndrome
joubert syndrome. Self Help Clearinghouse. joubert syndrome Foundation.International network. 7 chapters. Founded 1992.
http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29j
Health Library - Joubert Syndrome
joubert syndrome. Cerebellarparenchymal Disorder IV; CerebelloparenchymalDisorder IV Familial; Chorireninal Colobomajoubert syndrome;
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Health Library - Joubert Syndrome
joubert syndrome. Self Help Clearinghouse. joubert syndrome Foundation.International network. 7 chapters. Founded 1992.
http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29jou
What Is Joubert Syndrome?
The Genetics of joubert syndrome. What is joubert syndrome? joubert syndromeis a rare genetic developmental disorder, first identified in 1969.
http://gleesongenetics.ucsd.edu/whatisjs.htm

Extractions: The Genetics of Joubert Syndrome What is Joubert Syndrome? Joubert syndrome is a rare genetic developmental disorder, first identified in 1969. In patients with Joubert syndrome, certain regions of the brain are underdeveloped or malformed. These areas (notably the cerebellar vermis and malformed brain stem) include those affecting the centers for balance and coordination. This can lead to impaired attention, visual, spatial, motor, language and social functioning skills. Joubert syndrome is characterized by a host of features, many of which do not occur in every patient. Features that can be associated with Joubert Syndrome: Difficulty breathing including a) Irregular pattern b) Panting/labored breath c) Apnea (breathing stops momentarily) Difficulty with balance (ataxia) Limpness/lack of muscle tone or hypotonia Eye movement abnormality Head/skull/brain malformations including a) Encephalocele-a condition involving a hole in the skull, so it does not fully enclose the brain b) Meningocele-a condition involving a hole in the membrane around the brain c) Hydrocephalus-a condition involving too much fluid around the brain Kidney problems including a) Cysts b) Nephronopthesis c) Failure Vision problems including blindness Liver problems Polydactyly (more than five fingers or toes per limb) Tongue tumors Pituitary abnormality Autistic-like behavior Treatment and Prognosis Joubert Syndrome Links Current Research How can I get involved?
The Genetics Of Joubert Syndrome
joubert syndrome?
http://gleesongenetics.ucsd.edu/

Extractions: The Genetics of Joubert Syndrome Gleeson Lab What is Joubert Syndrome? Joubert Syndrome Links Newly Updated! Current Research How can I get involved? Treating Children with Joubert Syndrome Letter to Healthcare Providers Newly Updated! The State of Research Call for Patients Contact us Funded by the March of Dimes Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert Syndrome Joubert
Health Library - Joubert Syndrome
Saint Luke's Health System eLibrary. joubert syndrome. Self Help Clearinghouse.joubert syndrome Foundation. International network. 7 chapters.
http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29
Health Library
Joseph Disease. joubert syndrome. joubert syndrome FoundationJoubertSyndrome. Juvenile Diabetes Research Foundation-Diabetes. Juvenile
http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l
What Is Joubert Syndrome?
What is joubert syndrome and how it effects Joey .. mmjaziz_1122-01.jpg(32206 bytes). What is joubert syndrome? joubert syndrome
http://www.allaboutjoey.com/what_is_joubert_syndrome.htm

Extractions: What is Joubert Syndrome and how it effects Joey...... Joubert Syndrome (JS) is a rare genetic disorder affecting less than 350 people in the world. The gene for this syndrome has not yet been located, but it is aggressively being researched now. The key relationship between all JS patients is that the part of the brain called the cerebellar vermis is missing or is not formed properly. The most typical features of Joubert Syndrome are: Kidney and Liver Complications
AD HOC BIBLIO - INDEX SUJETS LETTRE J Compilé Le 14/01/03
Congenital Muscular dystrophy in Jordanian children .a; JoubertSyndrome A better understanding of joubert syndrome (Dossier
http://www.cidg.com/~marienf/k/i/mid1j.htm
Snoezelen : An Overview Of Research With...
Translate this page Titre/Title, Indian Pediatrics. Article, JoubertSyndrome. Identification, 38 2001 Pages 1045-49.
http://www.cidg.com/~marienf/k/i/n/m019308.htm

Extractions: # Article : A0033837 Cote/Call Number WB963/Snoezelen Auteur/Author Lancioni, G. E. Cuvo, A. J. O'Reilly, M. F. Titre/Title Disability and Rehabilitation Article Snoezelen : an overview of research with people with developmental disabilities and dementia. Identification No 4 24 2002 Pages: 175-84 Descripteurs/Descriptors Handicap intellectuel Demande par
Health Library: All Topics: J: Joubert's Syndrome - Healthfinder®
FAQ About joubert syndrome Answers to questions about this rare genetic disorder,including characteristics of the disease, prognosis, and treatment.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=952
Healthfinder® Joubert Syndrome Information Center
Online information center provides resources, articles and reports relatedto joubert syndrome. joubert syndrome Information Center. internet URL.
http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=4197&lang=1
Joubert Syndrome Foundation
Return to Search Page joubert syndrome Foundation. 6931 S. Carlina Avenue Columbia,MD 210461310 Conditions joubert syndrome. Hours Answered 7 days, 10-4
http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Jouber
Joubert Syndrome Foundation
Return to Search Page joubert syndrome Foundation. 6931 S. Carlina Avenue Columbia,MD 21046 Conditions joubert syndrome. Hours Answered 7 days, 104
http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Joub
NORD - National Organization For Rare Disorders, Inc.
joubert syndrome. To purchase fulltext report ($7.50) View Cart/Checkout. ChorireninalColoboma-joubert syndrome; Hyperpnea, Episodic-Abnormal Eye Movement;
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Joubert Syndr
DW Baby Thought To Have Joubert Syndrome
DW Baby thought to have joubert syndrome. This article babies. So, the docsstarted looking for something else and found joubert syndrome. We
http://neuro-www.mgh.harvard.edu/forum/DandyWalkerF/1.23.9912.37AMDWBabythoughtt

Extractions: -Reflux (has Nissenfundalplication and g-tube) I would love to discuss with anyone who is interested or facing the same challeneges the way we are coping with these different things and the way the "joubert mimic" situation played out. Jessica is strong and big and healthy. She smiles and gurgles and is learning to sit up. She is our angel from heaven and we wouldn't trade her for the world. We are thrilled to have our special girl. Have faith. If you're married - GET OUT and have a life. Treasure each other. If your having problems with your insurance company, sue them. Don't isolate. Don't think you have to sacrafice your life because you have a special child. You can have both and your child will be better off - not to mention you! Call on the State agencies to help (they're not as lame as you think). Oh, did I mention, if you have trouble with your insurance company, sue? And definately sue your insurnace company if you have trouble. They need to learn that they are in the business of caring and everyone in the world who has insurance and never gets sick are paying for our children and SO BE IT! They are all still making money, anyway, so DEMAND the best care for your child!
EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES
Features Listed For EGGER (1982) joubert syndrome WITH ORO-FACIO-DIGITALANOMALIES. McKusick 213300. Apnoea or tachypnoea; Brain
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?524

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