Beckwith-Wiedemann Syndrome Beckwith Wiedemann syndrome (BWS) is a fetal overgrowth disorder Renal abnormalitiesin beckwithwiedemann syndrome are associated with 11p15.5 http://www.humpath.com/article.php3?id_article=824
Extractions: AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Articulation in Beckwith-Wiedemann syndrome: Two case studies American Journal of Speech-Language Pathology Aug 2000 by Van Borsel, John Morlion, Bieke Van Snick, Kathleen Leroy, Jules S Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Beckwith-Wiedemann syndrome (BWS) is a genetic disorder with abdominal wall defects, gigantism, and macroglossia as its main characteristics. A number of investigators have reported the presence of articulation errors in individuals with BWS due to macroglossia. However, few data are available on the exact nature of the articulation problems of subjects with BWS. This paper presents two case studies that highlight the articulatory characteristics associated with BWS. Subjects were a boy aged 5 years 9 months and a girl aged 3 years 6 months. A phonetic analysis was conducted in which it was found that primarily consonants with an anterior place of articulation were affected. The error patterns appeared to be related to inappropriate tongue and lip postures. An observer experiment in which naive and expert observers rated speech samples from three modes of presentation (auditory-only, visual-only, and audiovisual) showed that the subjects' speech was more disturbed visually than auditorily.
Entrez PubMed beckwithwiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome Abdomen/abnormalities; beckwith-wiedemann syndrome/complications* http://www.reproductive-health-journal.com/pubmed/11813134
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Extractions: Search for: Limit by: All Topics Original Reports Review Articles Special Articles Biology of Neoplasia Editorials Comments and Controversies Diagnosis in Oncology Art of Oncology Correspondence All Years Browse by Topic or Issue Home Search/Browse Subscriptions ... Customer Service This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a colleague Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Grundy, R. Articles by Diller, L. Journal of Clinical Oncology , Vol 19, Issue 2 (January), 2001: 593-594 Institute of Child HealthLondon, United Kingdom To the Editor: In the study by Porteus et al published in the May 2000 issue of the Journal of Clinical Oncology the authors assume a correct diagnosis of Beckwith-Wiedemann syndrome (BWS) from National Wilms Tumor Study Group (NWSTG) data sheets completed by registering physicians at the time of diagnosis. Apparently, there was no
Extractions: Search for: Limit by: All Topics Original Reports Review Articles Special Articles Biology of Neoplasia Editorials Comments and Controversies Diagnosis in Oncology Art of Oncology Correspondence All Years Browse by Topic or Issue Home Search/Browse Subscriptions ... Customer Service This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a colleague Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Porteus, M. H. Articles by Diller, L. Journal of Clinical Oncology , Vol 18, Issue 10 (May), 2000: 2026-2031 American Society for Clinical Oncology By Matthew H. Porteus Patricia Narkool Donna Neuberg Katherine Guthrie Norman Breslow Daniel M. Green Lisa Diller Address reprint requests to Lisa Diller, MD, Dana-Farber Cancer Institute, 44 Binney St, Boston, MA 02115; email Lisa_Diller@ dfci.harvard.edu. PURPOSE: Children with Beckwith-Wiedemann syndrome (BWS) are reviewed the National Wilms Tumor Study Group (NWTSG) records to assess clinical characteristics and outcome of patients with WT and BWS.
IVF Raises Risk Of Beckwith Wiedemann Syndrome Children conceived by IVF are nine times as likely to have the very rare disorderbeckwithwiedemann syndrome as those conceived naturally, according to a http://www.medicalnewstoday.com/medicalnews.php?newsid=12067
Extractions: Directory ... B beckwith-wiedemann syndrome (Science: syndrome) This syndrome , of unknown cause , is characterised by a group of the following findings large tongue ... visceromegaly ), large body size umbilical hernia and neonatal hypoglycaemia . Evidence suggests a genetic lesion Birth weight is often more than 8 pounds Complications include Wilm's tumour seizures aspiration and hypoglycaemia.
Indian Pediatrics - Editorial Incomplete beckwithwiedemann syndrome in a Child with Orbital Rhabdomyosarcoma beckwith-wiedemann syndrome (BWS) was first recognized as a syndrome by http://www.indianpediatrics.net/mar2002/mar-299-304.htm
Extractions: L.S. Arya From the Division of Pediatric Oncology, Department of Pediatrics and *Rajendra Prasad Center for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India. Correspondence to: Dr. V. Thavaraj, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India. E-mail: sowmyam@mantraonline.com Manuscript received: May 31, 2001; Revision accepted: September 5, 2001. Beckwith-Wiedemann syndrome (BWS) was first recognized as a syndrome by Beckwith in 1963, when he reported autopsy findings on three unrelated children with omphalocele, macroglossia, cytomegaly of adrenal cortex, renal medullary hyperplasia and hyperplastic visceromegaly(1). In 1964 Wiedemann published an article on the same syndrome in three siblings with omphalocele, macrosmia and neonatal hypoglycemia(2). The incidence of BWS has been estimated to be 1:13700 live births(3). The increased risk of tumor formation in BWS patients is estimated to be 7.5%(4) and the risk is further increased to 10% if hemihypertrophy is present(4). It has been suggested that BWS can be inherited by the homozygous state of an autosomal recessive mutation(5). We describe a rare case report of partial expression of BWS associated with orbital rhabdomyosarcoma (RMS).
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/ng0297-181 Maxwell P. Lee , Ren-JuHu Hu , Laura A. Johnson Genomic imprinting is an epigenetic chromosomal modification in the gamete or zygote causing preferential expression of a specific parental allele in somatic cells of the offspring. We and others have identified three imprinted human genes on 11p15.5, (refs 1-4), (refs 1,5), and (ref. 6), although the latter gene is separated by 700 kb from the other two, and it is unclear whether there are other imprinted genes within this large interval. We previously mapped an embryonal tumour suppressor gene to this region7, as well as five balanced germline chromosomal rearrangement breakpoints from patients with Beckwith-Wiedemann syndrome (BWS)8, a condition characterized by prenatal overgrowth and cancer. We isolated the upstream exons of the previously identified gene , which causes the familial cardiac defect long-QT (LQT) syndrome. We found that
Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. BWS. EMG syndrome beckwith-wiedemann syndrome A 23 week fetus with Beckwith-Weidemann syndrome and associated severe http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=40
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Molecular Genetics And Epigenetics Of Beckwith-Wiedemann Syndrome Molecular genetics and epigenetics of beckwithwiedemann syndrome. Dr. MichaelHiggins Department of Cancer Genetics, Roswell Park Cancer Institute http://www.uofa-medical-genetics.org/news/article.php?article=115
Extractions: Vol. 131 No. 7, July 1977 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Ben-Galim E Abrahamov A Contact me when this article is cited E. Ben-Galim, E. Gross-Kieselstein and A. Abrahamov The Beckwith-Wiedemann syndromeexomphalos, macroglossia and gigantismoccurred in a mother and her son. The clinical and metabolic features of this syndrome are described. We believe this is the first report of this syndrome affecting a mother and her son. An autosomal dominant pattern of inheritance is suggested.
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Sao Paulo Medical Journal - beckwithwiedemann syndrome is a congenital disorder first recognized in 1964 by Monitoring the glycemia in beckwith-wiedemann syndrome newborns every 6 http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802003000300010
Beckwith Wiedemann Syndrome beckwithwiedemann syndrome. In Buyse ML, ed. Beckwith-Wiedemannsyndrome EMG (exomphalos-macroglossia-gigantism) syndrome. In Syndromes of the Head http://ibis-birthdefects.org/start/ukrainian/ubeckwit.htm
