Results 21 to 30 of about 4,847 (135)

A Case of BeckwithWiedemann Syndrome with Polyhydramnios

Indonesian Journal of Obstetrics and Gynecology, 2017
Objective: To report a rare case of Beckwith-Wiedemann Syndrome with polyhydramnios. Methods: Reporting a case of Beckwith-Wiedemann syndrome with polyhydramnios. Results: Case of Mrs. Y, 27 years old woman, G2P1A0L1 preterm pregnancy (30-31 weeks)
Yusrawati Yusrawati, Reno Muhatiah
doaj   +1 more source

Perioperative Management of a Pediatric Patient with Beckwith–Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser

Children, 2023
Here, we report the perioperative management of a clinical case of a 6 year, 5 month old girl suffering from Beckwith–Wiedemann syndrome undergoing a partial glossectomy procedure in a patient with surgical indication for obstructive sleep apnea syndrome
Antonio Izzi, Vincenzo Marchello, Aldo Manuali, Lazzaro Cassano, Andrea Di Francesco, Annalisa Mastromatteo, Andreaserena Recchia, Maria Pia Tonti, Grazia D’Onofrio, Alfredo Del Gaudio   +9 more
doaj   +1 more source

Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram

Clinics, 2009
BACKGROUND: Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors.
Clara L Ortiz-Neira, Jeffrey Traubici, Daneman Alan, Rahim Moineddin, Cheryl Shuman, Rosanna Weksberg, Monica Epelman   +6 more
doaj   +1 more source

Macroglossia and Beckwith-Wiedemann syndrome [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2011
Introduction. In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia.
Krasić Dragan, Radović Predrag, Burić Nikola, Krasić Dragana, Pešić Zoran, Videnović Goran   +5 more
doaj   +1 more source

Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma

Nature Communications, 2023
Pediatric liver tumors are very rare tumors with the most common diagnosis being hepatoblastoma. While hepatoblastomas are predominantly sporadic, around 15% of cases develop as part of predisposition syndromes such as Beckwith-Wiedemann (11p15.5 locus ...
Jill Pilet, Theo Z. Hirsch, Barkha Gupta, Amélie Roehrig, Guillaume Morcrette, Aurore Pire, Eric Letouzé, Brice Fresneau, Sophie Taque, Laurence Brugières, Sophie Branchereau, Christophe Chardot, Isabelle Aerts, Sabine Sarnacki, Monique Fabre, Catherine Guettier, Sandra Rebouissou, Jessica Zucman-Rossi   +17 more
doaj   +1 more source

Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports

Radiology Case Reports, 2022
Beckwith-Wiedemann syndrome (BWS) is a rare genetic disease, characterized by macrosomia, congenital malformations and tumor predisposition, associated with genetic and epigenetic alterations in the 11p15 region.
Andreia de Vasconcelos Gaspar, MD, Miguel Branco, MD, Eulália Galhano, MD, Fabiana Ramos, MD   +3 more
doaj   +1 more source

Coblation for Congenital Microglossia in Beckwith-Wiedemann Syndrome

Philippine Journal of Otolaryngology Head and Neck Surgery, 2008
Objective: To present a rare case of congenital macroglossia managed with radiofrequency ablation. Methods: Design:  Case report Setting:  Tertiary government hospital    Patient:   One Results: A case of a congenital macroglossia in a 4 ...
Melanie Y. Marino, Gil M. Vicente, Antonio H. Chua   +2 more
doaj   +1 more source

A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome

American Journal of Ophthalmology Case Reports, 2021
Purpose: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). Observations: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with ...
Maram Alnefaie, Mona Jefri, Fayqah Almahmoudi   +2 more
doaj   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Beckwith-Wiedemann syndrome and isolated hemihyperplasia

São Paulo Medical Journal
CONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition.
Marcus Vinícius de Matos Gomes, Ester Silveira Ramos   +1 more
doaj   +1 more source