Results 21 to 30 of about 298 (122)

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

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

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 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

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +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

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

Autopsy and Case Reports
Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum.
Wilker Dias Martins, Elisa França Chaves, Flavia Cristina Gonçalves de Aquino, Sean Brasil de Oliveira, Isabela Dorneles Pasa, Bruno Guimarães Marcarini, Vitor Ribeiro Paes, Chong Ae Kim, Regina Schultz   +8 more
doaj   +1 more source

A rare case of Beckwith-Wiedemann syndrome with encephalocele

The Pan African Medical Journal, 2020
A premature female child was delivered with polyhydramnios, an unusually large placenta and long umbilical cord. The clinical examination revealed that there is macrosomia, macroglossia and encephalocele. The patient also had complains of hypoglycemia on
Rakesh Khatana, Anamika Khatana
doaj   +1 more source