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.
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
Extractions: [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] [Back to top] Gene Mining and Functional Genomics in Human Osteoarthritis M.G. Attur, M.N. Dave, and A.R. Amin
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=
Extractions: 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.
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
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
Extractions: 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 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 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.
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
Extractions: 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 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
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
Extractions: Resources for Genetic Counselors site updated May 10, 2004 outlines links search Microcephaly Contracting: 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
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/
Extractions: Keyword Search: C assoicated to Health 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 Campylobacter Pylori Canavan Disease Cancer Candida ... Cytomegalovirus
