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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

61. The Health Library — Genetics And Birth Defects
Washington. Beckwith Wiedemann Syndrome. Questions and Answers About LivingWith beckwithwiedemann syndromeNational Cancer Institute. Info
http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics4.html
Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 1 Page 2 Page 3 Page 5 Chromosome Disorders and Other Multiple Abnormalities Chromosomal Abnormalities:March of Dimes Introduction to Chromosome Abnormalities:Chromosome Deletion Outreach Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Genes and Disease:Angelman Syndrome:NCBI Angelman Syndrome:GeneReviews, University of Washington Beckwith Wiedemann Syndrome Questions and Answers About Living With Beckwith-Wiedemann Syndrome:National Cancer Institute Info for New Families:Beckwith Wiedemann Support Network Beckwith-Wiedemann Syndrome:GeneReviews, University of Washington Bloom Syndrome Bloom's Syndrome:Jewish Genetic Diseases Bloom Syndrome:OMIM, NCBI Cornelia de Lange Syndrome FAQs About CdLS:Cornelia de Lange Syndrome Foundation Treatment Protocols for CdLS:Cornelia de Lange Syndrome Foundation Cornelia de Lange Syndrome:OMIM, NCBI Cri du Chat Syndrome What is Cri du Chat Syndrome?:Cri du Chat Support Group of Australia

62. Welcome To ENH.org - Health Encyclopedia: Beckwith-Wiedemann Syndrome
beckwithwiedemann syndrome. Causes, incidence, and risk factors The causeof beckwith-wiedemann syndrome is unknown, but it appears to be genetic.
http://www.enh.org/Encyclopedia/ency/article/001186.asp

Disease Reference
Injury Reference Test Reference Nutrition Reference ... Symptoms Reference
Beckwith-Wiedemann syndrome
Disease Injury Nutrition Poison ... Z Definition: Beckwith-Wiedemann syndrome is a consistent grouping of findings of unknown etiology (cause) and characterized by a large tongue ( macroglossia ), large organs ( visceromegaly ) and large body size ( macrosomia umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia
Causes, incidence, and risk factors: The cause of Beckwith-Wiedemann syndrome is unknown, but it appears to be genetic. Some cases may be associated with a defect in chromosome number 11. Affected children are often large at birth. Many have an abdominal wall defect, such as an umbilical hernia or omphalocele. They have a characteristic facial appearance with a gaping mouth and large tongue. Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development ( Wilm's tumor and adrenal carcinoma being most common).

63. Beckwith-Wiedemann Syndrome
beckwithwiedemann syndrome The Beckwith-Wiedemann Support GroupThe Drum And Monkey Hazelbury Bryan Dorset DT10 2EE Tel 01258
http://www.dialdoncaster.co.uk/supgrops/natgroup/nat210.htm
Home Support Organisations Fact Sheets Information Sheets ... Help using this site
Beckwith-Wiedemann Syndrome The Beckwith-Wiedemann Support Group
The Drum And Monkey
Hazelbury Bryan
Dorset
Tel:
Fax:
E-mail: rbaker5165@aol.com
Description:
Aims to provide support for parents of children with Beckwith-Wiedemann Syndrome.
Produces information sheets and a newsletter. Whilst all the information given in this document was correct at the time of going to press, DiAL Doncaster cannot be held responsible for any subsequent changes. Return to National Support Organisations starting with B

64. Beckwith-Wiedemann Syndrome. Three Case Report

http://www.medigraphic.com/ingles/i-htms/i-adm/i-od2001/i-od01-5/im-od015d.htm

65. Beckwith-Wiedemann Syndrome. Three Case Report
Toranzo FJM, Duarte HS, Rodríguez PA beckwithwiedemann syndrome. ABSTRACT.beckwith-wiedemann syndrome was first described in 1963.
http://www.medigraphic.com/ingles/i-htms/i-adm/i-od2001/i-od01-5/ir-od015d.htm
Toranzo FJM, Duarte HS, Rodríguez PA
Beckwith-Wiedemann syndrome. Three case report
Original title: Síndrome de Beckwith-Wiedemann: Reporte de tres casos
Rev ADM 2001; 58 (5): 170-172

ABSTRACT Beckwith-Wiedemann syndrome was first described in 1963. It is a rare congenital disease associated with macrosomy, onfalocele, craniofacial dismorfism, macroglosia, visceromegaly, hemihypertrophy and Wilms tumors. Head and neck signsare of variable expression including dental and cranio-facial anomalies. Three cases are reviewed and treated with partial glossectomy. Key words: Beckwith-Wiedemann, syndrome, macroglosia.

66. Health Library Find Information On Beckwith-Wiedemann Syndrome
beckwithwiedemann syndrome. Definition Causes, incidence, and risk factors Thecause of beckwith-wiedemann syndrome is unknown, but it appears to be genetic.
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

67. Health Ency.: Disease: Beckwith-Wiedemann Syndrome
beckwithwiedemann syndrome See images. Causes and Risks. The cause of Beckwith-Wiedemannsyndrome is unknown, but it appears to be genetic.
http://www.accessatlanta.com/shared/health/adam/ency/article/001186.html
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Ency. home Disease B Beckwith-Wiedemann syndrome See images Overview Symptoms Treatment ... Prevention Definition: Beckwith-Wiedemann syndrome is a consistent grouping of findings of unknown etiology (cause) and characterized by a large tongue ( macroglossia ), large organs ( visceromegaly ) and large body size ( macrosomia umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia Causes and Risks The cause of Beckwith-Wiedemann syndrome is unknown, but it appears to be genetic. Some cases may be associated with a defect in chromosome number 11. Affected children are often large at birth. Many have an abdominal wall defect, such as an umbilical hernia or omphalocele. They have a characteristic facial appearance with a gaping mouth and large tongue. Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of tumor development ( Wilm's tumor and adrenal carcinoma being most common).

68. Our Stolen Future: Risks Of In Vitro Fertilization
method called intracytoplasmic sperm injection, to a fourfold to sixfold increasedrisk for a condition known as beckwithwiedemann syndrome, an overgrowth
http://www.ourstolenfuture.org/Commentary/News/2003/2003-0124-LAT-invitrorisks.h
Navigate the site Newest developments Book Basics New Science Consensus Statements Commentary Myths vs. Reality Useful links Important Events Other Sources Other Languages About the Authors Los Angeles Times
24 January 2003 Some Studies See Ills for In Vitro Children By Rosie Mestel, Times Staff Writer In vitro fertilization has birthed a million babies worldwide, but now there are glimmerings of concern that the 25-year-old technology and other methods known collectively as assisted reproductive technology are causing several rare medical abnormalities. A pair of studies in the last three months have linked in vitro fertilization and a related method called intracytoplasmic sperm injection, to a fourfold to sixfold increased risk for a condition known as Beckwith-Wiedemann syndrome, an overgrowth disorder typified by children with enlarged tongues and other organs. Other reports within the last year have spotted a possible increase in Angelman syndrome, in which children have a spectrum of problems including speech impairment and mental retardation. In 2002, an Australian study published in the New England Journal of Medicine reported that rates of birth defects were twice as high in children conceived in vitro. And a U.S. study in the journal found that such children were more likely to have a low birth weight.

69. CancerGene KCNQ1OT1
SwissProt, LocusLink, KCNQ1OT1. Specific CancerGene Indexing Comments Keywords,DNA Methylation; Hypomethylation. Diseases, beckwithwiedemann syndrome.
http://caroll.vjf.cnrs.fr/cancergene/CG1619.html
Infobiogen
Search CancerGene CancerGene Homepage Search CancerGene Citations
CancerGene Card Symbol
Aliases LIT1; KvDMR1; KvLQT1-AS Name
KCNQ1 overlapping transcript 1;
long QT intronic transcript 1
Locus
OMIM
GDB SwissProt LocusLink
  • Keywords DNA Methylation; Hypomethylation Diseases Beckwith-Wiedemann Syndrome Note Increased tumour risk for Beckwith-Wiedemann syndrome patients correlates with aberrant H19 ( CG:756 ) and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS( CG:762 UI:21096922
    • Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Weksberg R;Shuman C;Caluseriu O;Smith AC;Fei YL;Nishikawa J;Stockley TL;Best L;Chitayat D;Olney A;Ives E;Schneider A;Bestor TH;Li M;Sadowski P;Squire J
      Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
      Hum Mol Genet 2002 May 15;11(11):1317-25.
      Weksberg R;Nishikawa J;Caluseriu O;Fei YL;Shuman C;Wei C;Steele L;Cameron J;Smith A;Ambus I;Li M;Ray PN;Sadowski P;Squire J Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

70. CancerGene BWS
beckwithwiedemann syndrome. Locus, 11p15.5-p15.5. This imprinted domain is implicatedin a wide variety of malignancies and beckwith-wiedemann syndrome (BWS).
http://caroll.vjf.cnrs.fr/cancergene/CG762.html
Infobiogen
Search CancerGene CancerGene Homepage Search CancerGene Citations
CancerGene Card Symbol
BWS
Aliases BWCR Name
Beckwith-Wiedemann syndrome
Locus
OMIM
GDB SwissProt LocusLink BWS
  • Class DISORDER Diseases Beckwith-Wiedemann Syndrome; Cancer Susceptibility; Carcinoma, Adrenal Cortical; Hepatoblastoma; Nephroblastoma; Rhabdomyosarcoma Note See the p57(KIP2) gene (CDKN1C, CG:250 ) for loss of imprinting (LOI) mutations.
    3 novel candidate genes have been identified: BWR1A ( CG:1128 OMIM:603240 ), and BWR1C ( CG:1129 A mutational analysis in tumor cell lines and Beckwith-Wied emann syndrome samples identified genetic alterations in the BWR1A gene. BWR1A may play a role in tumorigenesis ( UI:98188297
    Comments Human chromosome 11p15.5 harbors an intriguing imprinted gene cluster of 1 Mb. This imprinted domain is implicated in a wide variety of malignancies and Beckwith-Wiedemann syndrome (BWS). Recently, several lines of evidence have suggested that the BWS-associated imprinting cluster consists of separate chromosomal domains. Mitsuya et al. (1999, UI:99299235
    ) have previously identified LIT1 ( OMIM:604115 ), a paternally expressed antisense RNA within the KvLQT1 (

71. Searchalot Directory For Beckwith-Wiedemann Syndrome
Sponsored Links. Top Health Conditions and Diseases Genetic Disordersbeckwithwiedemann syndrome (6). Related Web Sites.
http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Beck
Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Beckwith-Wiedemann Syndrome Related Web Sites
  • 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.

72. Template Page For Individual Syndrome Web Site
from the Pediatric Database.......beckwithwiedemann syndrome. OMIM Direct Link. Clinical
http://georgia.ncl.ac.uk/URODwSMLS/IWS/Bs/BW.html
Beckwith-Wiedemann Syndrome
OMIM Direct Link Clinical Description from the Pediatric Database Beckwith-Wiedemann Syndrome Support Network We're glad to have found this support network, through the Altavista search engine, and wish it every success. Return to B's Return to Index Link to Webmaster

73. HSC: Research
My research program centers on the molecular analysis of individuals with overgrowthsyndromes such as beckwithwiedemann syndrome (BWS) and Simpson-Golabi
http://www.sickkids.on.ca/research/custom/profiles/weksberg.asp
Back to Research
Back to Scientific Staff Profiles
Rosanna WEKSBERG, MD, PhD
Senior Associate Scientist
The Hospital for Sick Children
Research Institute Professor of Paediatrics
University of Toronto Tel: (416) 813-6386
E-mail: rweksb@sickkids.ca RESEARCH INTERESTS
  • Genomic imprinting Overgrowth syndromes
MAJOR RESEARCH ACTIVITIES
Overgrowth syndromes.
SELECT RECENT PUBLICATIONS
Weksberg R , Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Human Molecular Genetics, 10(26): 2989-3000, 2001. Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome. Genomics, 65(3): 234-242, 2000. Lin AE, Neri G, Hughes-Benzie R

74. Bio1313
p57 KIP2 targeted disruption and beckwithwiedemann syndrome is the inhibitorjust a contributor? W. Jherek Swanger and James M. Roberts. Summary.
http://www.bioessays.demon.co.uk/1997/bio1313.htm
targeted disruption and Beckwith-Wiedemann syndrome: is the inhibitor just a contributor?
W. Jherek Swanger and James M. Roberts
Summary
Beckwith-Wiedemann syndrome is a human congenital disorder characterized by a wide variety of growth abnormalities, including developmental defects and predisposition to certain tumors. Genetic evidence has suggested a role for p57 , a member of a family of cell cycle inhibitory genes, in Beckwith-Wiedemann syndrome. Two independent groups have reported the generation and characterization of mice lacking functional p57 . These mice demonstrate a number of abnormal phenotypes which overlap with, although do not completely recapitulate, Beckwith-Wiedemann syndrome. These findings advance the molecular characterization of a human disorder, and provide insight into the interplay between regulation of cell division and development.

75. Beckwith-Wiedemann Syndrome
?. ? Email , Beckwith-WiedemannSyndrome scottie 2002/10/23 PM 025154. On 2002
http://www.genes.at-taiwan.com/board/GetMsg.asp?ID=1560

76. [Spermail] Imprinting Risks Of ART
http//bmj.com/cgi/content/full/326/7382/184/e?ct This refers to a recent articlein the Journal of Medical Genetics beckwithwiedemann syndrome and assisted
http://wwwstaff.murdoch.edu.au/pipermail/spermail/2003-January/000085.html
[Spermail] Imprinting risks of ART
Dr Jim Cummins cummins@central.murdoch.edu.au
Fri, 24 Jan 2003 09:51:24 +0800 ============_-1168749402==_ma============ Content-Type: text/plain; charset="us-ascii" ; format="flowed" Babies born after fertility treatment run increased risk of genetic disorder by Owen Dyer BMJ 2003 326(7382): p. 184e http://bmj.com/cgi/content/full/326/7382/184/e?ct cummins@central.murdoch.edu.au cummins@central.murdoch.edu.au

77. Cancerfacts.com
children born using assisted reproduction or in vitro fertilization techniques wereat significantly increased risk of beckwithwiedemann syndrome, a condition
http://www.cancerfacts.com/Home_News.asp?CancerTypeId=4&NewsId=1494

78. BECKWITH-WIEDEMANN (EMG) SYNDROME
Features Listed For beckwithwiedemann (EMG) syndrome. McKusick 130650.Abdominal muscle hypoplasia/aplasia; Adrenal tumours (excluding
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?172

79. Beckwith-wiedemann.org/

http://beckwith-wiedemann.org/

80. Beckwith Wiedemann, Syndrome : Arborescences MeSH
Translate this page Beckwith Wiedemann, syndrome. Menu général CISMeF. maladies et malformationscongénitales, héréditaires et néonatales C16 page CISMeF du motclef
http://www.chu-rouen.fr/navimesh/navibeckwithwiedemannsyndrome.html
Beckwith Wiedemann, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF

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