Beckwith Wiedemann Syndrome click For Medical Professionals only. Beckwith wiedemann syndrome,,Print this article, (John Bruce Beckwith, born1933, American http://www.amershamhealth.com/medcyclopaedia/Volume VII/Beckwith Wiedemann synd
Extractions: *For Medical Professionals only, registration required Beckwith wiedemann syndrome, (John Bruce Beckwith, born1933, American pathologist; Hans Rudolf Wiedemann, born 1915, German paediatrician).The clinical features are macroglossia, visceromegaly, umbilical hernia and hypoglycaemia. There is an increased incidence of Wilms tumour . Ultrasound examination confirms the visceromegaly which mainly affects the kidneys and liver. The umbilical hernia is visible on plain abdominal radiographs.The associated neoplasms affect the kidneys and liver.
Beckwith Wiedemann Syndrome Professionals only. Beckwith wiedemann syndrome,, Print this article,see Beckwith Wiedemann syndrome and Beckwith Wiedemann syndrome http://www.amershamhealth.com/medcyclopaedia/Volume IV 2/BECKWITH WIEDEMANN SYN
Wiedemann Beckwith Syndrome ***P Beckwith Wiedemann syndrome (from OMIM) EMG syndrome *** Beckwith Wiedemannsyndrome by Sandra R. Silva, MD, et al. Concerned with prenatal aspects. http://ibis-birthdefects.org/start/beck.htm
Extractions: Hemihypertrophy , partial or complete, was noted in 12.5% of the cases but in more than 49% of the children with neoplasms Bone age was significantly advanced in all patients large placentas that were almost twice the normal placental weight polyhydramnios often resulted in early delivery with occasional perinatal mortality. Excessive umbilical cord length was a manifestation of the increased placental size
Extractions: Beckwith-Wiedemann Syndrome HOUSTON(May 7, 1997)A birth-defect disorder known as Beckwith-Wiedemann syndrome that predisposes children to cancer is caused by mutations in a particular gene, according to researchers at Baylor College of Medicine and Howard Hughes Medical Institute (HHMI) in Houston and Albert Einstein College of Medicine in Bronx, N.Y. As reported in the May 8 issue of Nature, Beckwith-Wiedemann syndrome (BWS) occurs when there is a mutation in a gene called "p57KIP2". BWS affects one in 13,700 babies. The syndrome is characterized by a variety of physical abnormalities, including enlarged kidneys, liver, spleen, adrenal glands, tongue and other internal organs, gigantism resulting from extremely rapid bone growth, and an umbilical hernia, a condition in which the small intestines hang outside the navel. Babies with BWS are 1,000 times more likely to develop cancer during childhood. Currently, treatment is limited to surgery to correct the abnormalities. Dr. Stephen J. Elledge, a Baylor professor of biochemistry and an HHMI investigator, headed a research team that identified the p57KIP2 gene on chromosome 11 a few years ago. But the researchers were not able to confirm the link between the gene and BWS until they observed abnormalities in a mouse that lacked p57KIP2
Birth Disorder Information Directory - BA-BL Beckwith Wiedemann syndrome (ExomphalosMacroglossia-GigantismEMG syndrome) List of Sites. Beemer Ertbruggen syndrome http://www.bdid.com/defectba.htm
Extractions: HOME B-K Mole Syndrome Bader Syndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia Syndrome) BADS Syndrome Baelz Syndrome (Cheilitis Glandularis) Bagatelle Cassidy Syndrome (Macrocephaly Short Limbs Deafness) Bahemuka Brown Syndrome (Spastic Paraplegia Facial Cutaneous Lesions) Baker Vinters Syndrome (Hydrocephalus Craniosynostosis Bifid Nose) Ballard Syndrome (Brachydactyly, Combined B and E Types; Pitt Williams Brachydactyly) Baller Gerold Syndrome Ballinger Wallace Syndrome (Diabetes-Deafness Syndrome, Maternally Transmitted; Diabetes Mellitus, Noninsulin-Dependent/Type II, with Deafness) Bamboo Hair Syndrome Bamforth Syndrome (Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate)
Beckwith Wiedemann Support Group The beckwithwiedemann Support Group provides information about beckwith-wiedemannSyndrome to parents of affected children and medical professionals. http://www.ukselfhelp.info/bwsg/
Extractions: Beckwith Wiedemann Support Group Hazelbury Bryan Dorset DT10 2EE Tel (evenings) 01258 817 573, (mobile) 07889 211000, (fax) 01202 205 325 e-mail: rbaker5165@aol.com The Beckwith-Wiedemann Support Group provides information about Beckwith-Wiedemann Syndrome to parents of affected children and medical professionals. We have an information leaflet and a videotape of Dr Beckwith giving a presentation about the Syndrome. We have a database of information and put parents in contact with others in their locality if they so wish. Recommended link: www.beckwith-wiedemann.org This page provided by www.ukindex.info . Please visit and make it your home page. Please use the links below so that we can maintain this page as a free internet resource. All links are to UK sites visited and approved by the UK Index Editorial Team. Art, Music and MP3 Auctions Books (New, Secondhand and Out-of-Print) Business Services ... Wines and Spirits
Beckwith Wiedemann Syndrome,treatment ? The summary for this Gujarati page contains characters that cannot be correctly displayed in this language/character set. http://www.werathah.com/beck/treat.htm
Nature Publishing Group Transactivation of Igf2 in a mouse model of BeckwithWiedemann syndrome. FANGLINSUN*, WENDY L. DEAN*, GAVIN KELSEY*, NICHOLAS D. ALLEN WOLF REIK*. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v389/n6653/abs/3
Cancer Center (Siteman Cancer Center): Physician's Directory Louis, MO 63110. Areas of Clinical Interest Sickle cell disease, Beckwith Wiedemannsyndrome, Simpson Golabi Behmel syndrome, epidemiology, public health. http://wuphysicians.wustl.edu/physician2.asp?PhysNum=1093
NORD - National Organization For Rare Disorders, Inc. Beckwith Wiedemann syndrome. View Cart/Checkout. Copyright 1985, 1988, 1989, 1990,1993, 1994, 1997, 1999, 2000, 2002 Synonyms of Beckwith Wiedemann syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Beckwith Wied
12398-cpr November, 15 1998 Beckwith Wiedemann syndrome. We are caring fora woman with presumed BWS (Beckwith Wiedemann syndrome). She is http://www.hum-molgen.de/clinical/151198-cpr3.html
Extractions: She is now pregnant (24 weeks) and her fetus has a VSD. We will appreciate assistance in molecular work up of this patient. Moshe Frydman MD genetics Institute Ministry of Health Chaim Sheba Medical Center Tel Hashomer, 52621, Israel Phone 972-3-5303952 Fax 972-3-5302914 e-mail: mfrydman@POST.TAU.AC.IL
HON - News : Study Ties IVF To Rare Birth Defect Louis, looked at data from a national registry of patients with BeckwithWiedemannsyndrome (BWS), a rare condition marked by excessive growth of various http://www.hon.ch/News/HSN/510419.html
Extractions: HealthScoutNews Reporter FRIDAY, Nov. 22 ( HealthScoutNews) In vitro fertilization (IVF) procedures may be associated with a rare birth defect syndrome that predisposes children to certain cancers, scientists say. However, an IVF pioneer says the study is small, the association is not proven, and there is absolutely no cause for concern until much more research is done. The study authors agree that the findings need to be validated and the association needs to be confirmed by looking at larger numbers of people. The research is "not trying to raise a red flag," says Dr. Andrew Feinberg, a professor of medicine at Johns Hopkins and co-author of the study, published online now and in the January 2003 issue of the American Journal of Human Genetics . However, the issue, he says, "deserves study."
Nature Genetics volume 14 number 2 page 171 An imprinted gene p57 KIP2 is mutated in BeckwithWiedemannsyndrome Izuho Hatada 1* , Hirofumi Ohashi 2 , Yoshimitsu Fukushima 3 http://www.nature.com/ng/wilma/v14n2.868300974.html
Extractions: is a potent tight-binding inhibitor of several G cyclin/Cdk complexes, and is a negative regulator of cell proliferation . The gene encoding p57 is located at 11p15.5 (ref. 2), a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a cancer-predisposing syndrome, making it a tumour-suppressor candidate. Several types of childhood tumours including Wilms' tumour, adrenocortical carcinoma and rhabdomyosarcoma exhibit a specific loss of maternal 11p15 alleles, suggesting that genomic imprinting is involved . Genetic analysis of the Beckwith-Wiedemann syndrome indicated maternal carriers, as well as suggesting a role of genomic imprinting . Previously, we and others demonstrated that p57 is imprinted and that only the maternal allele is expressed in both mice and humans . Here we describe p57 mutations in patients with Beckwith-Wiedemann syndrome. Among nine patients we examined, two were heterozygous for different mutations in this gene a missense mutation in the Cdk inhibitory domain resulting in loss of most of the protein, and a frameshift resulting in disruption of the QT domain. The missense mutation was transmitted from the patient's carrier mother, indicating that the expressed maternal allele was mutant and that the repressed paternal allele was normal. Consequently, little or no active p57
Medline Record 95145017 Title Physical mapping of 3 candidate tumor suppressor genes relative to BeckwithWiedemannsyndrome associated chromosomal breakpoints at 11p15.3. http://www.aeiveos.com/au/westerveld-a/95145017.html
Extractions: Title: Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Author(s): Redeker E; Alders M; Hoovers JM; Richard CW 3rd; Westerveld A; Mannens M Address: Institute of Human Genetics, University of Amsterdam, The Netherlands. Source: Cytogenet Cell Genet 1995;68(3-4):222-5 Abstract: A physical map encompassing the 3 Mb region containing the breakpoints of two Beckwith-Wiedemann Syndrome patients at chromosome band 11p15.3 is presented. The candidate tumor suppressor genes WEE1, ST5, and rhombotin, are positioned on this map relative to these Beckwith-Wiedemann syndrome translocation and inversion breakpoints Major Indexes: Minor Indexes: Reagent Names: Language: English
