Results 11 to 20 of about 14,149 (242)

Beckwith–Wiedemann syndrome [PDF]

European Journal of Human Genetics, 2009
Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted ...
Rosanna, Weksberg, Cheryl, Shuman, J Bruce, Beckwith   +2 more
semanticscholar   +5 more sources

Functional Adrenocortical Adenoma in a Child with Beckwith–Wiedemann Syndrome

Case Reports in Pediatrics, 2021
Beckwith–Wiedemann syndrome (BWS) is a rare congenital condition characterized by complex overgrowth of different body parts. Children with Beckwith–Wiedemann syndrome, particularly those with hemihypertrophy, experience an increased risk of developing ...
Leen Jamel Doya, Naya Talal Hassan, Hanin Ahmed Mansour, Mohammad Ahmad Almahmod Alkhalil, Abdul Alrahman Almahmod Alkhalil, Nada Mansour, Alaa Abdallah   +6 more
doaj   +2 more sources

Diagnosis and Management of Beckwith-Wiedemann Syndrome

Frontiers in Pediatrics, 2020
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It
Kathleen H. Wang, Jonida Kupa, Kelly A. Duffy, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish   +5 more
doaj   +2 more sources

Beckwith-Wiedemann syndrome [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during ...
J. Salguero
semanticscholar   +7 more sources

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome [PDF]

European Journal of Human Genetics, 2016
Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
A Behnecke, A De Crescenzo, A Ibrahim, A Mussa, A Sparago, AC Smith, Andrea Riccio, B Keren, C Shuman, D Prawitt, David Monk, Deborah JG Mackay, Dirk Prawitt, DJ Mackay, DJ Mackay, E Meyer, Eamonn R Maher, EL Wakeling, Elizabeth Algar, F Brioude, F Brioude, F Brioude, Fiona Macdonald, Frédéric Brioude, G Binder, Gudrun Moore, H Bullman, HM Saal, Irène Netchine, J Beygo, J Bliek, Jet Bliek, JM Dupont, JM Kalish, Karen Grønskov, Karin Buiting, Katja Eggermann, KY Niederhoffer, L Cardarelli, L Tee, LE Docherty, Lukas Soellner, M Alders, M Begemann, M Begemann, M Constancia, M Elliott, M Kagami, Marcel Mannens, Matthias Begemann, MR DeBaun, P Monnier, Pablo Lapunzina, Paolo Lombardi, Rosanna Weksberg, S Azzi, S Azzi, S Bruce, S Kaltenbach, S Mulchandani, S Richards, S Schoenfelder, S Spengler, Silvia Russo, T Eggermann, T Eggermann, T Eggermann, T Eggermann, T Takenouchi, Thalia Antoniadi, Thomas Eggermann, Thomas Eggermann, Thomas Eggermann, Thomas Eggermann, W Abi Habib, WW Lam, X Cai, Y Ioannides, Zeynep Tümer   +78 more
core   +6 more sources

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report [PDF]

Clinical Case Reports, 2018
Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance in monozygotic twins israre.
Davide Vecchio, Ettore Piro, Giovanni Corsello, Gregorio Serra, Mandy Schierz, Vincenzo Antona   +5 more
core   +2 more sources

Beckwith-Wiedemann Syndrome: deciphering the genetic and clinical complexity - A case report with literature review [PDF]

Romanian Journal of Pediatrics, 2023
Beckwith-Wiedemann syndrome (BWS) is a rare and heterogeneous genetic condition characterized by overgrowth, organomegaly, and increased vulnerability to embryonal tumors.
Astrit M. Gashi, Brikene Elshani
doaj   +1 more source

Tongue Reduction Surgery Improves Mandibular Prognathism in Beckwith-Wiedemann Syndrome Without Compromising Tongue Function [PDF]

Clinical and Experimental Otorhinolaryngology, 2023
Objectives. This study evaluated the surgical outcomes of patients with Beckwith-Wiedemann syndrome who underwent tongue-reduction surgery and analyzed whether the malocclusion and mandibular prognathism caused by macroglossia could be improved. Methods.
Do Won Kim, Jeong Kyou Kim, Gene Huh, Doh Young Lee, Seong Keun Kwon   +4 more
doaj   +1 more source

The diagnosis of Beckwith-Wiedemann syndrome in a child and psychological implications to parents – A case report

Rwanda Medical Journal, 2023
INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings.
B. Tuyishimire, H. Irere, N. Dukuze, B. Iradukunda, C. Muhizi, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa   +8 more
doaj   +2 more sources

Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice

Cancers, 2022
Simple Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn overgrowth disorder caused by molecular alterations in chromosome 11p15.5.
Thomas Eggermann, E. Maher, C. Kratz, D. Prawitt   +3 more
semanticscholar   +1 more source