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         Beckwith-wiedemann Syndrome:     more detail
  1. Beckwith-Wiedemann syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Renee, MS Laux, 2005
  2. Section on Surgery. (Abstracts of Scientific Posters).(a discussion of a case of a patient with Beckwith-Wiedemann Syndrome): An article from: Southern Medical Journal
  3. Living with Beckwith-Wiedemann Syndrome (SuDoc HE 20.3152:B 38) by Nancy Weissman, 2001

41. BabyCenter | Community: BBS - Chromosome Disorders | Beckwith-Wiedemann Syndrome
of his cells or thereabouts. Anyway, the syndrome it causes is called beckwithwiedemann syndrome. Most children with BWS are born
http://bbs.babycenter.com/board/baby/babyills/1378212/thread/1013914
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Preconception
Pregnancy Baby ... Chromosome disorders "Beckwith-Wiedemann Syndrome..." Posts: Last Post: May 6, 2004, 12:43 PM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Back to Chromosome disorders Messages First Last Author: Lemony May 5, 2004 , 2:09 PM (PDT) Yay! We finally have a board for chromosomal disorders. It's about time!
I'm glad to see that there are a few people on here already. I'm sure as time goes on it will fill up. Although our kid's disorders will probably vary, I'm sure we'll have a lot to talk about.
My son David was born in April 02. He has a maternal copy error of chromosome 11, and it's mosaicism so it's only in 5% of his cells or thereabouts. Anyway, the syndrome it causes is called Beckwith-Wiedemann syndrome.
Most children with BWS are born with enlarged tongues and crimped ears, but my son didn't have any outward physical symptoms. The only sign he had was large abdominal cysts which were found in utero by u/s. They have since disappeared on their own. David shows a bit of hemi-hypertrophy (one entire side of his body grows a little larger and faster than the other side), but it is barely noticeable too.

42. Health Library -
Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General Discussion Resources beckwithwiedemann syndrome (BWS) is a rare genetic disorder.
http://myhealth.barnesjewish.org/library/healthguide/illnessconditions/topic.asp

43. CMGS-GENETIC ABNORMALITIES IN BECKWITH-WIEDEMANN SYNDROME/16.1.98
MRC PATH 16/1/98 assignment 5.2 David Bonthron. GENETIC ABNORMALITIES IN beckwithwiedemann syndrome (BWS). BWS - a congenital overgrowth
http://www.ich.ucl.ac.uk/cmgs/bw.htm
MRC PATH 16/1/98 assignment 5.2 David Bonthron
GENETIC ABNORMALITIES IN BECKWITH-WIEDEMANN SYNDROME (BWS)
BWS - a congenital overgrowth syndrome
  • Associated features - gigantism, macroglossia, viceromegaly -
  • Developmental abnormalities - Wilms tumour, congenital heart defects, hemihypertrophy
  • Inheritance - may be AD but expressed only in individuals who inherit it from their mother
  • Caused by mutation at 11p15.5.
  • Pathogenesis of the disease - involves deregulation of imprinted genes in the region
Genomic imprinting
  • Expression of an allele depends on its parental origin
  • Disease can occur if the normally expressed allele is absent or mutated:
  • Deletion
  • Uniparental disomy - (2 copies from 1 parent)
  • Chromosome rearrangment
  • Mutation which leads to loss of expression
    • Mechanism appears to operate at transcriptional level and involves DNA methylation
    • Clustering of imprinted genes suggests possible signal which can act on several genes
    • Imprint changes as required - tissue specific differences, variation during development, when passing from parent to child.
    Genes involved in BWS Imprinted gene cluster at 11p15.5 contains at least 3 genes:
  • 44. CMGS-GENOMIC IMPRINTING IN BECKWITH-WIEDEMANN SYNDROME/16.12.97
    GENOMIC IMPRINTING IN beckwithwiedemann syndrome. Genomic imprinting, the differential expression of a gene depending upon its parental
    http://www.ich.ucl.ac.uk/cmgs/bwsimp.htm
    GENOMIC IMPRINTING IN BECKWITH-WIEDEMANN SYNDROME
    Genomic imprinting, the differential expression of a gene depending upon its parental origin, is a phenomenon which appears to be peculiar to mammalian genomes and may have evolved alongside placentation as a vital regulator of parental investment allocation between placenta and embryo . Disorders of imprinted genes tend to result in syndromes or symptoms in which abnormal tissue or organ growth features prominently, and it is likely that most if not all genes subject to imprinting will be found to play a role in growth regulation. Because of the profound effect of parental origin on gene expression, such disorders can arise not only from deletion or point mutation of one or the other copy, but also from uniparental disomy and from 'imprinting mutations' affecting the epigenetic modifications (primarily DNA methylation) responsible for the imprinting process.
    Beckwith-Wiedemann syndrome
    is an overgrowth syndrome affecting 1/13 700 livebirths and whose symptoms include gigantism and macroglossia, as well as a significantly increased predisposition to various childhood tumours e.g. Wilms tumour. Most cases are sporadic, but a significant minority (15%) are familial and the BWS locus was mapped to 11p15.5 in man; the autosomal dominant, sex-dependent mode of transmission suggested that the gene responsible was subject to imprinting. The homologous region in mouse chromosome 7 was known to contain two imprinted genes: insulin-like growth factor 2 (Igf2) and H19, which therefore became the main candidates for the 'BWS gene'. The Igf2 peptide stimulates the growth of undifferentiated cells, while H19 encodes an RNA found abundantly in developing embryos.

    45. Health Library -
    Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General Discussion Resources beckwithwiedemann syndrome (BWS) is a rare genetic disorder.
    http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

    46. Beckwith-Wiedemann Syndrome,BWS,Beckwith Wiedemann Syndrome,Beckwith-Syndrome,EM
    beckwithwiedemann syndrome (BWS), a rare genetic disorder, may be characterized by at http//www.keepkidshealthy.com/welcome/conditions/beckwithwiedemann.html
    http://www.icomm.ca/geneinfo/bws.htm
    Beckwith-Wiedemann Syndrome,BWS,Beckwith Wiedemann Syndrome,Beckwith-Syndrome,EMG Syndrome,Exomphalos-Macroglossia-Gigantism Syndrome Hypoglycemia with Macroglossia,Macroglossia-Omphalocele-Visceromegaly Syndrome,Omphalocele-Visceromegaly-Macroglossia Syndrome,Visceromegaly-Umbilical Hernia-Macroglossia Syndrome,Wiedmann-Beckwith Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
    to Information on the Internet about Genetic Disorders and Birth Defects

    Genetic Information and Patient Services, Inc. (GAPS)
    HOME
    DISORDERS GLOSSARY Beckwith-Wiedemann Syndrome
    also known as:
    Beckwith Syndrome
    BWS
    EMG Syndrome
    Exomphalos-Macroglossia-Gigantism Syndrome
    Hypoglycemia with Macroglossia
    Macroglossia-Omphalocele-Visceromegaly Syndrome Omphalocele-Visceromegaly-Macroglossia Syndrome Visceromegaly-Umbilical Hernia-Macroglossia Syndrome Wiedmann-Beckwith Syndrome
    picture at http://www.nlm.nih.gov/medlineplus/ency/imagepages/17076.htm Beckwith-Wiedemann syndrome in the newborn is a consistent group of findings of unknown cause and is characterized by large tongue (macroglossia), large organs (visceromegaly), large body size (macrosomia), hernia of the navel (omphalocele) and small head (microcephaly). A metopic ridge is a ridge of bone or suture line on the forehead between the two halves of the frontal bone. The ridging is caused when the two halves close prematurely.

    47. BWS (Beckwith-Wiedemann Syndrome) - General Practice Notebook
    BWS (beckwithwiedemann syndrome). A baby with beckwith-wiedemann syndrome is born large, macrosomic, and grows into a gigantic infant.
    http://www.gpnotebook.co.uk/cache/-1187708885.htm
    BWS (Beckwith-Wiedemann syndrome) A baby with Beckwith-Wiedemann syndrome is born large, macrosomic, and grows into a gigantic infant. Another name for this association is the EMG syndrome because of the triad of classical features:
    • exomphalos macroglossia gigantism

    Click here for more information...

    48. Genetic Disorders: Beckwith-Wiedemann Syndrome
    Genetic Disorders beckwithwiedemann syndrome. in their locality. BWSN beckwith-wiedemann syndrome. Information about this organization
    http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Be
    Genetic Disorders: Beckwith-Wiedemann Syndrome
    Home Health Conditions and Diseases Genetic Disorders : Beckwith-Wiedemann Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000';
    Standard Listings
    Adam.com: An Overview
    A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.
    Beckwith-Wiedemann Family Chat Forum
    An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support.
    Beckwith-Wiedemann Family Forum
    A way for people from around the world who are interested in BWS to get support and share information.
    Beckwith-Wiedemann Support Group
    UK based support group. Offers a database of information and puts parents in contact with others in their locality.
    BWSN: Beckwith-Wiedemann Syndrome
    Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email sup...

    49. HealthCentral - General Encyclopedia - Beckwith-Wiedemann Syndrome
    General Health Encyclopedia, beckwithwiedemann syndrome. Causes, incidence, and risk factors The cause of beckwith-wiedemann syndrome is unknown.
    http://www.healthcentral.com/mhc/top/001186.cfm
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    50. Conditions And Diseases - Beckwith-Wiedemann Syndrome Top Links
    beckwithwiedemann syndrome Web Site Links. The CaF Directory - A description of beckwith-wiedemann syndrome, features, and possible complications.
    http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
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    Beckwith-Wiedemann Syndrome Web Site Links BWSN: Beckwith-Wiedemann Syndrome Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group.
    Beckwith-Wiedemann Syndrome
    Written by Sandra R Silva, MD and Philippe Jeanty, MD, PhD, an article with a definition, etiology, incidence, diagnosis, complications, prognosis and management.
    The CaF Directory
    A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group.
    Keep Kids Healthy
    A discussion of beckwith-wiedemann syndrome, its features and treatments.
    National Library of Medicine
    weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features.
    Adam.com: An Overview
    A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.
    Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.

    51. Kprones BeckwithWiedemannID10037
    beckwithwiedemann syndrome. Identity. Clinical features and natural history of beckwith-wiedemann syndrome presentation of 74 new cases.
    http://www.infobiogen.fr/services/chromcancer/Kprones/BeckwithWiedemannID10037.h
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Home Genes Leukemias Solid Tumours ... NA
    Beckwith-Wiedemann syndrome
    Identity Other names EMG syndrome Inheritance incidence of 7/10 ; given the variable expression of the symptoms, the actual frequency is likely to be higher; generally there is sporadic occurrence of the syndrome (85%); inheritance is mostly maternal (imprinting) with a more severe phenotype after maternal transmission Clinics Note clinically and genetically heterogeneous; three distinct regions on 11p15 have been associated with BWS (BWSCR1/2/3); BWSCR2 seems to be particularly associated with hemihypertrophy Phenotype and clinics multiple features that occur variably; most prominent is the EMG triad (exomphalos-macroglossia-gigantism): apart from the abdominal wall defects and pre- and postnatal growth abnormalities, earlobe pits or creases, facial nevus flammeus, hypoglycemia, renal abnormalities and hemihypertrophy (unilateral overgrowth) are frequently seen Patient with Beckwith-Wiedemann syndrome. The face shows the enlarged tongue (macroglossia), the ear the typical earlobe creases - Marcel Mannens Neoplastic risk the increased risk for childhood solid tumours is 7.5% (thousand fold increase); tumours most frequently seen are

    52. Beckwith-Wiedemann Syndrome - Cancer Terms And Definitions By Health Dictionary
    beckwithwiedemann syndrome beckwith-wiedemann syndrome increases the risk of developing certain cancers, especially Wilms’ tumor. More Cancer Terms.
    http://www.health-dictionary.com/cancer_term_details/Beckwith-Wiedemann_Syndrome
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    Beckwith-Wiedemann Syndrome:
    A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms’ tumor.
    More Cancer Terms
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    Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions
    2002-2004. All right are reserved.

    53. Beckwith-Wiedemann Syndrome
    Selected medical images OMIM beckwithwiedemann syndrome. beckwith-wiedemann syndrome; beckwith-wiedemann syndrome; Benign Hemorrhagic
    http://www.gfmer.ch/Genetic_diseases/Developmental_genetic_diseases/Beckwith-Wie
    Selected medical images
    OMIM

    Beckwith-Wiedemann syndrome Sources
    Print this page
    Edited by Aldo Campana, August 13, 2003

    54. NCI: Beckwith-Wiedemann Syndrome
    beckwithwiedemann syndrome. beckwith-wiedemann syndrome increases the risk of developing certain cancers, especially Wilms’ tumor.
    http://www.jamesline.com/patientsandpublic/cancertypes/glossary/index.cfm?action

    55. BrainTalk Communities - Beckwith-Wiedemann Syndrome
    1. 0311-2004, 1042 PM. ~Pansy~. Community Member. Join Date Mar 2004. Posts 62. beckwith-wiedemann syndrome. Beckwith-Wiedemann Support Network. Reply With Quote.
    http://brain.hastypastry.net/forums/showthread.php?t=167

    56. BrainTalk Communities - Beckwith-Wiedemann Syndrome
    1. 0311-2004, 1042 PM. ~Pansy~. Community Member. Join Date Mar 2004. Posts 64. beckwith-wiedemann syndrome. Beckwith-Wiedemann Support Network. Reply With Quote.
    http://brain.hastypastry.net/forums/showthread.php?goto=lastpost&t=167

    57. Health, Conditions And Diseases, Genetic Disorders: Beckwith-Wiedemann Syndrome
    Adam.com An Overview A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.
    http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Beckwith
    Top Health Conditions and Diseases Genetic Disorders ...
    • Adam.com: An Overview - A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors. BWSN: Beckwith-Wiedemann Syndrome - Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group. Beckwith-Wiedemann Family Chat Forum - An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support. Beckwith-Wiedemann Family Forum - A way for people from around the world who are interested in BWS to get support and share information. Beckwith-Wiedemann Support Group - UK based support group. Offers a database of information and puts parents in contact with others in theirlocality. Beckwith-Wiedemann and Related Disorders Victoria - Information resource for families affected by the overgrowth disorders Beckwith-Wiedemann Syndrome, Simpson-Golabi-Behmel Syndrome or Isolated Hemihypertrophy. Keep Kids Healthy - A discussion of beckwith-wiedemann syndrome, its features and treatments.

    58. Beckwith-Wiedemann Syndrome
    The New Health Directory, Directory, Home Health Conditions and Diseases Genetic Disorders beckwithwiedemann syndrome (5). BWSN
    http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Be
    Directory Home Health Conditions and Diseases Genetic Disorders : Beckwith-Wiedemann Syndrome (5)
      BWSN: Beckwith-Wiedemann Syndrome - Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group. The CaF Directory - A description of beckwith-wiedemann syndrome, features, and possible complications. Also information about a support group. Keep Kids Healthy - A discussion of beckwith-wiedemann syndrome, its features and treatments. National Library of Medicine - weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features. Adam.com: An Overview - A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.

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    59. :: Ez2Find :: Beckwith-Wiedemann Syndrome
    discussion of beckwithwiedemann syndrome, its features and treatments. URL http//www.keepkidshealthy.com/welcome/conditions/beckwithwiedemann.html; National
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    60. Short Description Of Cell Lines. Pathology: Beckwith-Wiedemann Syndrome #130650
    Version 4.200205, Short description of cell lines. Pathology beckwithwiedemann syndrome 130650 OMIM record. - By selecting the
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