Results 31 to 40 of about 298 (122)

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Case Reports in Genetics, 2014
Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare.
Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, Tony Kayembe Kitenge, Leon Kabamba Ngombe, Prosper Kalenga Muenze, Prosper Lukusa Tshilobo, François Tshilombo Katombe, Célestin Banza Lubaba Nkulu, Koenraad Devriendt   +9 more
doaj   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

A Rare Side Effect of Diazoxide Therapy: Pulmonary Hipertension

Journal of Behçet Uz Children's Hospital, 2020
We present a newborn diagnosed with Beckwith-Wiedemann syndrome and hypoglycemia, and developed pulmonary hypertension due to initiated diazoxide treatment because of these indications.
Alper Hazım Gürsu, Emine Azak, Eda Mengen, Sevim Ünal, Ibrahim Ilker Cetin   +4 more
doaj   +1 more source

Beckwith–Wiedemann Syndrome

Journal of Bangladesh College of Physicians and Surgeons, 2015
Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation characterized by macrosomia, macroglossia and developmental abnormalities with a predisposition to tumour development. The diagnosis of Beckwith-Wiedemann syndrome may be missed because of variable or incomplete clinical expression.
Nazmun Nahar, Kishwar Azad, Tahmina Begum, Rubaiya Islam, Fauzia Mohsin   +4 more
openaire   +2 more sources

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

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
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

A case report of beckwith-wiedemann syndrome [PDF]

Journal of Kerman University of Medical Sciences, 2002
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal ...
B Basiri, M SHekohi
doaj  

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   +1 more source

Evidence for anticipation in Beckwith–Wiedemann syndrome [PDF]

European Journal of Human Genetics, 2013
Classical Beckwith-Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children's mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. Their parents had average heights of 173 cm (mother) and 180 cm (father).
Berland, Siren, Appelbäck, Mia, Bruland, Ove, Beygo, Jasmin, Buiting, Karin, Mackay, Deborah J.G., Karen Temple, I., Houge, Gunnar   +7 more
openaire   +6 more sources

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, Volume 109, Issue 6, Page 999-1006, June 2026.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source