Results 21 to 30 of about 14,149 (242)

Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies

Cancers, 2023
Simple Summary Beckwith–Wiedemann Syndrome (BWS) is one of the five most frequent syndromes predisposing to Wilms tumor (WT). BWS can be underdiagnosed if the phenotype is mild, and WT can be the presenting symptom.
P. Quarello, D. Carli, D. Biasoni, S. Gerocarni Nappo, C. Morosi, R. Cotti, E. Garelli, G. Zucchetti, M. Spadea, E. Tirtei, F. Spreafico, F. Fagioli   +11 more
semanticscholar   +1 more source

Beckwith‐Wiedemann syndrome with macroglossia as the most significant manifestation: A case report

Clinical Case Reports, 2021
Beckwith‐Wiedemann syndrome is a complex multisystem disorder that requires collaboration of medical and dental teamfor its diagnosis and management. We present a dental overview and an update of the clinical and molecular diagnoses of Beckwith‐Wiedemann
Shatha Lamfoon, Sondos Abuzinada, Ahmad Yamani, Nada Binmadi   +3 more
doaj   +1 more source

Placental Mesenchymal Dysplasia and Beckwith–Wiedemann Syndrome

Cancers, 2022
Simple Summary Placental mesenchymal dysplasia (PMD) is a morphological abnormality resembling partial hydatidiform moles without abnormal trophoblastic proliferation.
H. Soejima, Satoshi Hara, T. Ohba, K. Higashimoto   +3 more
semanticscholar   +1 more source

Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes. [PDF]

Clin Cancer Res
Wilms tumors are commonly associated with predisposition syndromes many, but not all, of which include overgrowth. Several of these syndromes also include a risk of other embryonal malignancies - particularly hepatoblastoma.
Kalish JM, Becktell KD, Bougeard G, Brodeur GM, Diller LR, Doria AS, Hansford JR, Klein SD, Kohlmann WK, Kratz CP, MacFarland SP, Pajtler KW, Rednam SP, Schienda J, States LJ, Villani A, Weksberg R, Zelley K, Tomlinson GE, Brzezinski JJ.   +19 more
europepmc   +2 more sources

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance

International Journal of Molecular Sciences, 2021
Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. BWS is caused by (epi)genetic defects at the 11p15 chromosomal region, which harbors two clusters of imprinted genes, IGF2/H19 and CDKN1C/KCNQ1OT1 ...
L. Fontana, S. Tabano, S. Maitz, P. Colapietro, E. Garzia, A. Gerli, S. Sirchia, M. Miozzo   +7 more
semanticscholar   +1 more source

Beckwith-Wiedemann Syndrome in a Premature Dizygotic Female Twin: A Case Report

The Annals of African Surgery, 2022
Beckwith-Wiedemann Syndrome is a congenital disease that is rare and has low prevalence worldwide. It presents classically with features of macroglossia, abdominal wall defects (omphalocele), and macrosomia at birth.
George Otieno Nyakiti , Brian Odhiambo Ooro ​   +1 more
doaj   +1 more source

Genetic syndromes associated with overgrowth in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific ...
Jung Min Ko
doaj   +1 more source

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith‐Wiedemann syndrome

Hepatology Communications, 2022
Beckwith‐Wiedemann Syndrome (BWS) is the most common human overgrowth disorder caused by structural and epigenetic changes to chromosome 11p15. Patients with BWS are predisposed to developing hepatoblastoma (HB).
Natali S Sobel Naveh, Emily M Traxler, K. Duffy, J. Kalish   +3 more
semanticscholar   +1 more source

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. [PDF]

, 2014
BACKGROUND: Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5.
Berg, Jonathan, Dias, Renuka P, Hardy, Carol, Ibrahim, Abdulla, Kirby, Gail, Lim, Derek, MacDonald, Fiona, Maher, Eamonn R, Nightingale, Peter, Tee, Louise   +9 more
core   +13 more sources

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Clinical Epigenetics, 2020
PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo.
M. Cubellis, Laura Pignata, A. Verma, A. Sparago, Rosita Del Prete, M. Monticelli, L. Calzari, Vincenzo Antona, D. Melis, R. Tenconi, S. Russo, F. Cerrato, A. Riccio   +12 more
semanticscholar   +1 more source