81. Article : Rhombencephalosynapsis - A Rare Diagnosis On Computed Tomography; Auth Michaud J, Mizrahi EM, Urich H. agenesis of the vermis with fusion of the cerebellarhemispheres, septooptic dysplasia and associated abnormalities. http://www.ijri.org/articles/archives/2003-13-1/cns_107.htm

CNS Rhombencephalosynapsis: A Rare Diagnosis on Computed Tomography KB Taori, SV Kimmatkar, K Mitra, S Khandekar Ind J Radiol Imag 2003 13:1:107-109 Key Words: Rhombencephalosynapsis, Computed Tomography 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.

82. Current Genomics, Vol. 4, No. 2, 2003 Joubert syndrome (JS) is a rare autosomal recessive syndrome characterised byagenesis or dysgenesis of the cerebellar vermis with accompanying brainstem http://www.bentham.org/cg/cg4-2.htm

[Back to Contents Page] [Back to Home Page] Current Genomics, Vol. 4, No. 2, 2003 Contents Gene Mining and Functional Genomics in Human Osteoarthritis Pp. 109-121 M.G. Attur, M.N. Dave, and A.R. Amin [Abstract] Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations Pp. 123-129 C.L. Bennett, J. Meuleman, P.F. Chance and I.A. Glass [Abstract] Review of Common Sequence Alignment Methods: Clues to Enhance Reliability Pp. 131-146 Christophe Lambert, Jean-Marc Van Campenhout, Xavier DeBolle and Eric Depiereux [Abstract] Human Kallikreins: Common Structural Features, Sequence Analysis and Evolution Pp. 147-165 George M. Yousef and Eleftherios P. Diamandis [Abstract] Assessment of Gene Transfer Using Imaging Methodology Pp. 167-184 Annette Altmann, and Uwe Haberkorn [Abstract] Approaches to Quantification of RNA Targets by PCR Based Techniques Pp. 185-204 F. Watzinger, and T. Lion [Abstract] Abstracts [Back to top] Gene Mining and Functional Genomics in Human Osteoarthritis M.G. Attur, M.N. Dave, and A.R. Amin

83. Karger Publishers This results in cystic dilatation of the fourth ventricle with agenesis of thecerebellar vermis 1, 2, 3, 4. The pathogenesis of Blake s pouch cyst is http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

84. BabyCenter | Community: BBS - Hydrocephalus | Hi Everyone! Introduction... Haley has Dandy Walker malformation {4th ventricle cyst, completeagenesis of the cerebellar vermis, cerebellar hypoplasia, etc}. http://bbs.babycenter.com/board/pregnancy/pregcomplications/1379789/thread/10133

85. Joubert Syndrome disorder subdivision(s) covered by this report. Synonyms CerebellarVermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation; http://my.webmd.com/hw/health_guide_atoz/nord20.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Joubert Syndrome Important It is possible that the main title of the report Joubert Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation Cerebellar Vermis Aplasia Cerebellarparenchymal Disorder IV Cerebelloparenchymal Disorder IV Familial Chorireninal Coloboma-Joubert Syndrome Hyperpnea, Episodic-Abnormal Eye Movement Joubert-Bolthauser Syndrome Kidneys, Cystic-Retinal Aplasia Joubert Syndrome

86. Disease Directory : Genetic Disorders : Joubert Syndrome Syndrome, Joubert syndrome. Synonyms, JoubertBoltshauser syndrome. cerebellarvermis agenesis. cerebelloparenchymal disorder IV (CPD IV). http://www.diseasedirectory.net/Genetic_Disorders/Joubert_Syndrome/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Joubert Syndrome CHDD Center - Joubert Syndrome REA - Research Emphasis Area on Joubert Syndrome, Coordinator: Phillip F. Chance, MD. Joubert syndrome is an autosomal recessive developmental CHDD forms new research center on Joubert syndrome and other ... - 14, #2 CHDD forms new research center on Joubert syndrome and other disorders of the cerebellum • Dandy-Walker malformation, a heterogeneous group of dis EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES - Features Listed For EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES. McKusick: 213300. Apnoea or tachypnoea; Brain Encyclopedia4U - Joubert syndrome - Encyclopedia Article - Joubert syndrome. Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. Future Research Directions in Joubert Syndrome - Report on a meeting on Future Research Directions in Joubert Syndrome, held June 27 - 28, 2002. Future Research Directions in Joubert Syndrome. GeneReviews: Joubert Syndrome - Your browser does not support HTML frames so you must view Joubert Syndrome in a slightly less readable form. Please follow this link to do so.

87. Joubert Syndrome Joubert syndrome. Cerebelloparenchymal Disorder IV, CPD IV, cerebellar VermisAgenesis, JoubertBoltshauser Syndrome Joubert Syndrome Foundation, Inc. http://www.kumc.edu/gec/support/joubert.html

Joubert syndrome Cerebelloparenchymal Disorder IV, CPD IV, Cerebellar Vermis Agenesis, Joubert-Boltshauser Syndrome Joubert Syndrome Foundation, Inc. includes Joubert Syndrome Parents-In-Touch 6931 South Carlinda Ave Columbia, MD 21046 Phone: 410.997.8084 Fax: 410.992.9184 E-mail: joubertfoundation@joubertfoundation.com Web site: www.joubertfoundation.com/ Joubert Syndrome FAQ Also See: National organizations information on genetic conditions or birth defects Joubert Syndrome Information Page , National Institute of Neurological Disorders and Stroke (NINDS) Joubert Syndrome , Online Mendelian Inheritance in Man (OMIM) *213300 To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised July 16, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

88. Level II Ultrasound:The Fetal Head And Neck Differential diagnosis Joubert syndrome SOURCEOMIM agenesis of the cerebellarvermis, abnormal eye movenment, ataxia, mental retardation, early death. http://www.perinatology.com/ultrasound/cns.htm

perinatology.com Level II Ultrasound: The Fetal Head and Neck Return to Homepage Translate Site Map Agencies and Organizations Calculators Critical Care Exposures Chemicals Drugs Infection Physical Agent ... About us Ultrasound Menu Agenesis of Corpus Anencephaly Aneurysm of the Vein of Galen Arachnoid Cyst Arnold Chiari Malformation Choroid Plexus Cyst Cleft Palate Craniosynostosis Cystic Hygroma Encephalocele Dandy-Walker Malformation Hydrocephaly Holoprosencephaly Hydranencephaly Intracranial Mass Isolated Mild Ventriculomegaly "Lemon" Sign Microcephaly Nuchal Translucency Porencephaly Ventriculomegaly (If the menus below are not expanded, then reload the page.) Sonographic finding(s) Differential Diagnosis General: Face and neck Central Nervous System Source: TheFetus.net Sonographic Evaluation of the Fetal Head Source: GE Medical Systems US Assessment of the Fetal Head and Neck: A State-of-the-Art Pictorial Review Source: Radiological Society of North America Measurement of the Biparietal Diameter(BPD) and Head Circumference(HC) The BPD is measured at the level of the thalami and cavum septi pellucidi from the outer edge of the skull table to the inner edge of the opposite skull table.

89. NDTA - Education Abstract This child with ataxic cerebral palsy secondary to agenesis of thevermis of the cerebellum benefited from regular physical therapy and other http://www.ndta.org/edu/parentfamily.asp

Neuro-Developmental Treatment Association Education Network Articles NDTA Approved Courses and Educational Opportunities Conferences and NITE Courses About NDTA ... IG Click above for more information Description, Assessment and Treatment Progression of a Child with Ataxic Cerebral Palsy: A Single Subject Case Study: Part I Janet M. Wilson Howle, PT, MACT This paper has two goals. First, it describes the developmental patterns of a child with ataxic C.P. relating pathophysiology to sensorimotor impairments and functional limitations. Second, it demonstrates the effectiveness of the physical therapy program specifically designed for this child. Introduction Assessment Process The model for assessment used in this case is adapted from the Hypothesis-Oriented Algorithm for Clinicians (HOAC). This model provides a systematic method for clinical decision making that is independent of methods of assessment or treatment philosophy. Within this model, the assessment data is classified following the disablement model developed by the National Center for Medical Rehabilitation Research (NCMRR). (4) This model has recently been accepted as standards of practice by the NDT Instructors. (5) I. Data Collection-Pertinent Medical and Developmental History

90. Microcephaly Nongenetic causes. 1. Congenital CNS Anomalies. agenesis of the CerebellarVermis. agenesis of the Corpus Callosum. Craniosynostosis. Encephalocele. http://www.genesoc.com/counseling/Outlines/microcephaly.htm

Resources for Genetic Counselors site updated May 10, 2004 outlines links search Microcephaly Contracting: Acknowledge prior phone contact Review main concerns of family What do they hope to gain from the session? Overview of today's session, explaining what we will do to try and figure out the cause of ’s small head. Family and medical history Obtain information about maternal and neonatal infections, pregnancy exposures to drugs, birth complications, head circumference at birth, head sizes of other family members, seizures, MR, LD, birth defects, unusual physical features, chronic health problems, anyone with a genetic condition, what type of tests have been done Overview: Definitions vary somewhat most often occurs as a result failure of normal brain growth but may also be due to a poorly growing skull (i.e., craniosynostosis) may be present at birth or occur in first 2 years of life if insult to brain occurs beyond 2 years of age less likely to produce severe microcephaly Clinically and genetically heterogeneous condition Genetic and environmental causes Generally associated with MR, but not in all cases

91. New Page 1 Directory Results for C assoicated to Health from Linkspider.org. KeywordSearch C assoicated to Health. Search and Browse Information http://www.linkspider.org/index.cgi/Health/ConditionsandDiseases/C/

Directory Results for C assoicated to Health from Linkspider.org Keyword Search: C assoicated to Health Search and Browse Information about C assoicated to Health with The Linkspider Organization Search For: Match » -All words -Any word -Exact text Content » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Per-Page » default All Results Timeout » default 1 second 2 seconds 3 seconds 4 seconds 5 seconds 6 seconds 7 seconds 8 seconds 9 seconds 10 seconds 12 seconds 15 seconds 20 seconds Search Bar Download Suggest a Site Personalize Directory Topic C assoicated to Health Directory Tree: Top Health Conditions and Diseases : C ( Campylobacter Pylori Canavan Disease Cancer Candida ... Cytomegalovirus Offers a guide to motorized RVs, such as the motorhome, mini-motorhome, and van camper. Lists RV price range and features.

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