41. AllRefer Health - Beckwith-Wiedemann Syndrome - Beckwith-Wiedemann Syndrome Pict beckwithwiedemann syndrome - beckwith-wiedemann syndrome pictures and images. http://health.allrefer.com/health/beckwith-wiedemann-syndrome-beckwith-wiedemann

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Beckwith-Wiedemann Syndrome : Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome 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). Next Image Jump to another image Beckwith-Wiedemann Syndrome Metopic Ridge Jump to another section Definition Prevention Treatment Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Cushing's Syndrome - Adrenal Tumor Diastasis Recti Hypoglycemia Omphalocele ... MRI Other Topics Anterior Chromosome Etiology Fatigue ... Main Page of Beckwith-Wiedemann Syndrome From Our Sponsors: A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's

42. Kprones BeckwithWiedemannID10037 Patient with beckwithwiedemann syndrome. The face shows the enlarged tongue Clinical features and natural history of beckwith-wiedemann syndrome 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

43. Beckwith-Wiedemann Syndrome Medical Information beckwithwiedemann syndrome Information from Drugs.com. http://www.drugs.com/enc/beckwith_wiedemann_syndrome.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Beckwith-Wiedemann syndrome Injury Disease Nutrition Poison ... Metopic ridge Beckwith-Wiedemann syndrome Definition Beckwith-Wiedemann syndrome is characterized by a consistent set of symptoms including a large tongue ( macroglossia ), large organs ( visceromegaly ), large body size ( macrosomia umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia ). The cause is unknown. Causes 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.

44. Beckwith-Wiedemann Syndrome,BWS,Beckwith Wiedemann Syndrome beckwithwiedemann syndrome,BWS,Beckwith Wiedemann Syndrome,Beckwith-Syndrome,EMGSyndrome,Exomphalos-Macroglossia-Gigantism Syndrome Hypoglycemia with http://www.icomm.ca/geneinfo/bws.htm

45. OMIM - BECKWITH-WIEDEMANN SYNDROME; BWS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130650

46. Beckwith-Wiedemann Syndrome Notes for physicians on beckwithwiedemann syndrome (BWS). This document includesdiagnosis, a clinical description, differential diagnosis, management, http://omni.ac.uk/browse/mesh/D001506.html

low graphics Beckwith-Wiedemann Syndrome broader: Chromosome Disorders other: Angelman Syndrome Branchio-Oto-Renal Syndrome Down Syndrome Prader-Willi Syndrome ... GeneReviews : Beckwith-Wiedemann syndrome Notes for physicians on Beckwith-Wiedemann syndrome (BWS). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in March 2000 (updated April 2003), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Beckwith-Wiedemann Syndrome / genetics Last modified: 02 Sep 2005

47. Beckwith-Wiedemann Syndrome - Genetics Genetics of beckwithwiedemann syndrome and Related Tumours Maher ER, ReikW beckwith-wiedemann syndrome imprinting in clusters revisited. http://www.cancerindex.org/geneweb/X2217.htm

Cancer Genetics Web www.cancer genetics.org Beckwith-Wiedemann syndrome Mutated Genes and Abnormal Protein Expression Genetics of Beckwith-Wiedemann syndrome and Related Tumours Cancer Risk in Beckwith-Wiedemann syndrome Screening for Wilms' Tumour in Beckwith-Wiedemann Mutated Genes and Abnormal Protein Expression Gene Location Topics CDKN1C Mutations in Beckwith-Wiedemann syndrome IGF2 and Beckwith-Wiedemann syndrome. Genetics of Beckwith-Wiedemann syndrome and Related Tumours Maher ER, Reik W Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000 Feb;105(3):247-52 Related articles Steenman M, et al. Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways. Genes Chromosomes Cancer 2000 May;28(1):1-13 Related articles (PubMed) Li M, et al. Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet 1998 Oct 2;79(4):253-9 Related articles (PubMed) Medline Search: Beckwith-Wiedemann syndrome AND genetics (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Related Resources Beckwith-Wiedemann syndrome (OMIM) Wilms' Tumour Genetics Cancer Risk in Beckwith-Wiedemann syndrome DeBaun MR, Tucker MA

48. Beckwith-Wiedemann Syndrome - Wikipedia, The Free Encyclopedia beckwithwiedemann syndrome (BWS) is a very rare genetic overgrowth syndrome (prevalenceof about 1 in 36000). This condition is caused either by mutations http://en.wikipedia.org/wiki/Beckwith-Wiedemann_syndrome

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Beckwith-Wiedemann syndrome From Wikipedia, the free encyclopedia. Beckwith-Wiedemann syndrome (BWS) is a very rare genetic overgrowth syndrome (prevalence of about 1 in 36,000). This condition is caused either by mutations in DNA or by errors in imprinting Symptoms of the illness include macroglossia or 'large tongue'. Macroglossia occurs in approximately 80% of cases and often results in 'floppy' airways which are often treated by a tracheotomy edit External links The Pediatric Bulletin This medical article is a stub . You can help Wikipedia by expanding it Retrieved from " http://en.wikipedia.org/wiki/Beckwith-Wiedemann_syndrome Categories Eponymous diseases Medicine stubs Views Article Discussion Edit this page History Personal tools Create account / log in Navigation Main Page Community portal Current events Recent changes ... Donations Search Toolbox What links here Related changes Upload file Special pages ... Permanent link This page was last modified 23:20, 4 August 2005.

49. Hill Health Topics A-Z - Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome. National Organization for Rare Disorders beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord52&SEC

50. Image: Macroglossia In Beckwith-Wiedemann Syndrome Click here to return to the Pediatric Surgery at Brown Home Page. Key wordsmacroglossia, tongue, macrosomia, hernia of umbilical cord, omphalocele, http://bms.brown.edu/pedisurg/Brown/IBImages/AbdWallDefects/Macroglossia.html

Click here to return to the Pediatric Surgery at Brown Home Page Key words: macroglossia, tongue, macrosomia, hernia of umbilical cord, omphalocele, exomphalos, umbilical cord, Beckwith-Wiedeman, Wiedemann, Wilms, hepatoblastoma, insulin, hypoglycemia, hemi-hypertrophy, aniridia, peel, gastroschisis, abdominal wall defect, laparoschisis, scaphoid abdomen, amniotic fluid, short bowel, short gut, atresia, umbilical cord, fetus, ultrasound, newborn, prenatal diagnosis, amnioinfusion

51. Beckwith-Wiedemann Syndrome (BWS): DNA ANALYSIS beckwithwiedemann syndrome (BWS) Genetic Analysis Suspected diagnosis ofa congenital overgrowth syndrome with at least two of the following symptoms http://www.surgery.wustl.edu/bjcmdl/BWS.htm

Beckwith-Wiedemann Syndrome (BWS): Genetic Analysis Indications for Molecular Testing for BWS Suspected diagnosis of a child with BWS Suspected diagnosis of a congenital overgrowth syndrome with at least two of the following symptoms present: th % corrected for gestational age) macroglossia abdominal wall defects neonatal hypoglycemia ear creases/pits BWS DNA Analysis AIM: To provide molecular detection of methylation abnormalities at 11p15 (both LIT1 and H19) associated with diagnosis of BWS. Interpretation of DNA analysis Direct mutation testing involves determination of restriction fragment sizes and methylation status following BamH1 + Not1 (Lit1) or Pst1 + Sma1 (H19) digestion and genomic Southern hybridization with Lit1 or H19 probes, respectively. Unmethylated, expressed regions are digested with Not1 or Sma1. Normal Lit1 gene expression occurs from the paternal allele with methylation of the maternal allele. Normal H19 expression occurs from the maternal allele with methylation of the paternal allele. Approx. 66% of patients in our BWS Registry have mutations and exhibit abnormal methylation patterns at Lit1, H19, or both of these sites. Confirmation of uniparental disomy (UPD) with microsatellite markers is also performed upon detection of abnormal methylation at both sites.

52. Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General DiscussionResources beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord52

53. Beckwith-Wiedemann Syndrome - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situhybridization (FISH)based assay for identifying the duplication on 11p15.5 associated http://www.bcmgeneticlabs.org/tests/cyto/beckwith.html

BECKWITH-WIEDEMANN SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the duplication on 11p15.5 associated Beckwith-Wiedemann syndrome. Clinical Features: Beckwith-Wiedemann is an overgrowth syndrome characterized by macrosomia, macroglossia (large tongue), omphalocele, neonatal hypoglycemia and ear creases. Individuals with Beckwith-Wiedemann syndrome are at increased risk for certain tumors such as Wilms tumor and neuroblastoma. Reasons for Referral: Patients with clinical features suggestive of Beckwith-Wiedemann syndrome may be tested for a duplication of 11p15.5 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and has been shown to have a duplication detectable by FISH. Please call regarding all prenatal samples.

54. National Cancer Institute - Dictionary Of Cancer Terms defects of the abdominal wall near the navel. beckwithwiedemann syndromeincreases the risk of developing certain cancers, especially Wilms’ tumor. http://www.cancer.gov/Templates/db_alpha.aspx?CdrID=304689

55. Penn State Faculty Research Expertise Database (FRED) , A syndrome of multiple defects Beckwith Wiedemann Syndrome, Exomphalos Macroglossia Gigantism Syndrome......beckwithwiedemann syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D001506

56. Disruption Of Chromosome Loops Can Lead To Beckwith-Wiedemann Syndrome ? Babraham Institute scientists have identified chromosome ‘loops’ which haveimplications for healthy growth of babies in the womb. http://www.news-medical.net/?id=4121

57. Beckwith-Wiedemann Syndrome Our Grandaughter was born on 19 June 2000 with beckwithwiedemann syndrome.Can you tell us about this syndrome or where we could get some information on http://www.nurseminerva.co.uk/beckwith.htm

question received Our Grandaughter was born on 19 June 2000 with Beckwith-Wiedemann Syndrome. Can you tell us about this syndrome or where we could get some information on this subject. In particular, prognosis and care for children with this problem. response Our Grandaughter was born on 19 June 2000 with Beckwith-Wiedemann Syndrome. Can you tell us about this syndrome or where we could get some information on this subject. In particular, prognosis and care for children with this problem. th June 2000 Beckwith-Wiedemann Syndrome (BWS) - also called the Wiedemann-Beckwith Syndrome (WBS) and the Exomphalos-Macroglossia-Gigantism (EMG) syndrome The Beckwith-Wiedemann Syndrome Support Network at www.beckwith-wiedemann.org/ provides much useful information and encouragement for all those who want to know about this syndrome. On the website, Dr Beckwith explains that the long-term outlook is very good, with BWS children growing up to be normal in appearance and intelligence. He encourages parents to view their children, not as "syndrome babies", but as children with individuality just like any other children. Some of the features that make babies with BWS appear distinctive may need to be corrected, such as the occasional case where the tongue is so large it requires surgery. He also recommends an ultrasound examination of the abdomen every 3 months, since there can be a greater risk of tumour development up to about the age of 8 years - early detection enables suitable and effective treatment.

58. CMGS-GENETIC ABNORMALITIES IN BECKWITH-WIEDEMANN SYNDROME/16.1.98 GENETIC ABNORMALITIES IN beckwithwiedemann syndrome (BWS). BWS - a congenitalovergrowth syndrome. Associated features - gigantism, macroglossia, 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:

59. CMGS-GENOMIC IMPRINTING IN BECKWITH-WIEDEMANN SYNDROME/16.12.97 beckwithwiedemann syndrome is an overgrowth syndrome affecting 1/13 700 livebirthsand whose symptoms include gigantism and macroglossia, 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.

60. Beckwith-Wiedemann Syndrome Topic - Unified Search Environment beckwithwiedemann syndrome MSH/MH/D001506 MSH/PM/D001506 MSH/PM/D001506 MSH/PM/D001506 MSH/EN/D001506 MSH/PM/D001506 http://www.use.hcn.com.au/portals/shared/subject.`Beckwith-Wiedemann Syndrome`/h

Beckwith-Wiedemann Syndrome Topic Tree Definition: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNA, UMBILICAL), MACROGLOSSIA, and GIGANTISM and secondarily by visceromegaly, HYPOGLYCEMIA, and ear abnormalities. Synonyms and Source Vocabularies: Beckwith-Wiedemann Syndrome Exomphalos-Macroglossia-Gigantism Syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

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