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         Joubert Syndrome:     more detail
  1. Genodermatoses: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome
  2. Shannadoah: A Journey of Discovery About Dandy Walker, Joubert Syndrome, Helpful Resources and More by Shelley Boulet, 2003-04
  3. The Official Parent's Sourcebook on Joubert Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30
  4. Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Kevin, MS, CGC Sweet, 2005
  5. 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
  6. Malformation Du Système Nerveux: Spina Bifida, Lissencéphalie, Malformations Congénitales Du Système Nerveux Central, Syndrome de Joubert (French Edition)
  7. Fibrocystic Diseases of the Liver (Clinical Gastroenterology)

81. Encyclopedia4U - Joubert Syndrome - Encyclopedia Article
joubert syndrome. joubert syndrome is a rare, genetic disorder that affectsthe area of the brain that controls balance and coordination.
http://www.encyclopedia4u.com/j/joubert-syndrome.html
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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 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. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.
Based on http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm

82. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Joubert Syndrome
Search DMOZVerzeichnis All Categories Categories Onlye. Links URLhinzufügen. joubert syndrome Information sheet compiled by NINDS.
http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Joubert_Synd
Home Health Conditions and Diseases Genetic Disorders : Joubert Syndrome Search DMOZ-Verzeichnis:
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  • Joubert Syndrome
    Information sheet compiled by NINDS.
    http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm
  • Joubert Syndrome Foundation
    Organization, conferences and contact details. FAQs about the disease, information center and resources.
    http://www.joubertfoundation.com/
  • National Library of Medicine: Joubert syndrome
    Synonyms, a summary and a list of major features for this disorder.
    http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html
  • Readers Digest Health A brief discussion about joubert syndrome, its alternate names and further resources. http://www.rd.com/common/nav/index.jhtml?articleId=8612189
  • TheFetus.net A detailed look at Joubert Syndrome starting with a definition, etiology, prenatal diagnosis, clinical findings, genetics and prognosis. http://www.thefetus.net/page.php?id=122
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83. Joubert Syndrome From Linkspider UK Health Directory
joubert syndrome by Linkspider UK, joubert syndrome links and JoubertSyndrome topics from our Health directory. Helping you find
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84. 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
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    What is Joubert Syndrome?

    Is there any treatment?

    What is the prognosis?

    What research is being done?
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    Related NINDS Publications and Information

    What is Joubert Syndrome?
    Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (

    85. Joubert's Syndrome - Eurorad - Clinical Case 738 - Resident
    teaching files radiology joubert's syndrome Psychomotor retardation. Dystonia, ataxia. Respiratory disturbance. Abnormal eye movements. joubert's syndrome EAR ECR elearning elearning joubert's
    http://www.eurorad.org/case.cfm?uid=738

    86. Joubert's Syndrome (www.whonamedit.com)
    joubert s syndrome A rare, genetic disorder that affects the area of thebrain that controls balance and coordination. joubert s syndrome
    http://www.whonamedit.com/synd.cfm/2702.html

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    Whonamedit.com does not give medical advice.
    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.
    Joubert's syndrome Also known as:
    Joubert-Boltshauser syndrome
    Synonyms: Synonym: familial cerebellar vermis agenesis. Associated persons: Eugen Boltshauser Marie Joubert Description: 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. In 1969 Marie Joubert et al described 4 siblings of consanguineous parents. Her first patient was a boy who was admitted to the Montreal Children's Hospital when he was six months old. This patient is still alive (2002).

    87. Joubert's Syndrome - Eurorad - Clinical Case 1071 - Resident
    teaching files,radiology,joubert s syndrome,A 4 yearold male patient presentedwith mental motor retardation, and abnormal eye movements characterized by
    http://www.eurorad.org/case.cfm?uid=1071

    88. Joubert (Syndrome De -)
    joubert (syndrome de -) joubert (syndrome de -). Des chercheurs
    http://www.frm.org/informez/info_ressources_maladies_fiche.php?id=45

    89. Joubert's Syndrome
    Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M,N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, joubert s syndrome,.Print this article,
    http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/JOUBERTS SYNDRO
    Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Joubert's syndrome, (Marie Joubert, 20th century, Canadian neurologist), belongs to the group of cerebellar hypoplasias and is characterized by vermian hypoplasia or aplasia with cerebellar hemispheres that appear disconnected on MR. This is an autosomal recessive disorder found in children with breathing abnormalities (periodic hyperpnoea), developmental delay, ataxia and abnormal eye movements. MR may show other midline abnormalities such as corpus callosum agenesis or an ectopic posterior pituitary gland.
    GS
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    90. Joubert's Syndrome
    N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, joubert s syndrome,.Print this article, (Marie joubert, 20th century, Canadian neurologist).
    http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/JOUBERTS SYNDROM
    Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Joubert's syndrome, (Marie Joubert, 20th century, Canadian neurologist). Features of this syndrome include facial dysmorphism with low-set ears, recurrent apnoea in the neonatal period, developmental delay, ataxia and fits. MR imaging shows partial or complete absence of the cerebellar vermis with or without absence of the corpus callosum, and an enlarged cisterna magnum.
    HC
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    91. Dictionary Definition Of JOUBERT'S SYNDROME
    Dictionary definition of joubert S syndrome. Medical dictionary. BrowseDictionary by alphabet. 0 1 2 3 4 5 6 7 8 9 A B C D E F G H
    http://www.dictionarybarn.com/JOUBERTS-SYNDROME.php
    Dictionary definition of JOUBERT'S SYNDROME
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    job

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    92. Re: WHAT IS JOUBERT'S SYNDROME
    Re WHAT IS joubert S syndrome. Date Tue Mar 17 150356 1998 Posted ByPaulette Caswell, Grad student Education, etc., AMICUS, Inc. Ed. Svcs.
    http://www.madsci.org/posts/archives/mar98/890170134.Ns.r.html
    MadSci Network : Neuroscience
    Re: WHAT IS JOUBERT'S SYNDROME
    Date: Tue Mar 17 15:03:56 1998
    Posted By: Paulette Caswell, Grad student Education, etc., AMICUS, Inc. Ed. Svcs.
    Area of science: Neuroscience
    ID: 889810983.Ns Message:
    Hello. One of the best places to find information on disabilities is at the website www.familyvillage.wisc.edu First, click on the icon called "Library." Then click on the icon that says "Specific Disabilities." Then, click on the icon that contains the letter "J." There is full information about Joubert's Syndrome on that website, plus contact information for additional questions that you may have about Joubert's Syndrome after you read the website information (which is extensive). Current Queue Current Queue for Neuroscience Neuroscience archives Try the links in the MadSci Library for more information on Neuroscience MadSci Home Information Search ... Join Us! MadSci Network, webadmin@www.madsci.org

    93. WHAT IS JOUBERT'S SYNDROME
    MadSci Network Neuroscience. Subject WHAT IS joubert S syndrome. Date MessageNo message entered. Re WHAT IS joubert S syndrome. Current
    http://www.madsci.org/posts/archives/mar98/890170134.Ns.q.html
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    Subject: WHAT IS JOUBERT'S SYNDROME
    Date: Fri Mar 13 11:43:03 1998
    Posted by karen davis
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    City: st. louis State/Province: MO
    Country: USA
    Area of science: Neuroscience
    ID: 889810983.Ns Message:
    No message entered. Re: WHAT IS JOUBERT'S SYNDROME Current Queue Current Queue for Neuroscience Neuroscience archives Try the links in the MadSci Library for more information on Neuroscience MadSci Home MadSci Home Information ... Join Us! MadSci Network, webadmin@www.madsci.org

    94. Database Search Results
    database does not imply endorsement by the US Department of Healthand Human Services.. Searched keywords for joubert s syndrome.
    http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Joubert's Syndrome

    95. Jouberts.html
    joubert S syndrome. joubert s syndrome is a rare condition in which themiddle part of the cerebellum (the vermis) doesn t properly form .
    http://www.indiana.edu/~pietsch/joubert.html
    go to Shufflebrain main menu
    JOUBERT'S SYNDROME
    web contact: pietsch@indiana.edu 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. For general information click here. 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 Record 1 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12 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

    96. The 11-14-week Scan - Chapter 2.23
    The 1114-week scan. KH Nicolaides, NJ Sebire, RJM Snijders. JOUBERTSYNDROME. This is a rare, lethal, autosomal recessive condition
    http://www.fetalmedicine.com/11-14scanbook/Chapter2/chap02-23.htm
    The 11-14-week scan
    KH Nicolaides, NJ Sebire, RJM Snijders JOUBERT SYNDROME This is a rare, lethal, autosomal recessive condition characterized by partial or complete absence of the cerebellar vermis. It is associated with profound mental retardation and developmental delay. Death usually occurs in the first 5 years of life. In the studies on chromosomally normal fetuses with increased nuchal translucency ( Table 1 and Table 2 ), the prevalence of Joubert syndrome (two in 4626) was higher than that expected in the general population Return to Contents Page Next..

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