The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome
KA Duffy, MA Deardorff… - American Journal of …, 2017 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is one of the most common cancer predisposition
disorders. As a result, BWS patients receive tumor screening as part of their clinical …
disorders. As a result, BWS patients receive tumor screening as part of their clinical …
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
H Sassi, Y Elaribi, H Jilani, I Rejeb… - … Genetics & Genomic …, 2021 - Wiley Online Library
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth
syndrome characterized by congenital malformations and predisposition to embryonic …
syndrome characterized by congenital malformations and predisposition to embryonic …
The counterpart congenital overgrowth syndromes Beckwith-Wiedemann Syndrome in human and large offspring syndrome in bovine involve alternations in DNA …
Abstract Beckwith-Wiedemann Syndrome (BWS, OMIM# 130650) is a congenital epigenetic
disorder in humans which affects approximately 1 in 10,340 children. The incidence is likely …
disorder in humans which affects approximately 1 in 10,340 children. The incidence is likely …
Obstructive sleep apnea in children with Beckwith-Wiedemann syndrome
Study Objectives: Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth
disorder that includes a spectrum of clinical findings including macroglossia, especially in …
disorder that includes a spectrum of clinical findings including macroglossia, especially in …
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
HM Luk - Journal of Pediatric Endocrinology and Metabolism, 2017 - degruyter.com
Background: The objective of this study was to examine the clinical and molecular features,
genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting …
genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - jmg.bmj.com
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Prenatal ultrasound in fetuses with polycystic kidney appearance—expanding the diagnostic algorithm
C Simonini, EM Fröschen, J Nadal, B Strizek… - Archives of Gynecology …, 2023 - Springer
Purpose Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic
appearance in a single center between 1999 and 2020 with special focus on renal …
appearance in a single center between 1999 and 2020 with special focus on renal …
Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith–Wiedemann Syndrome
W Pawlukowska, M Patalan, E Bagińska, M Giżewska… - Brain Sciences, 2023 - mdpi.com
About 90% of children diagnosed with classic BWS have macroglossia, and 40% of them
are submitted to surgical tongue reduction. The purpose of our article is to present a case …
are submitted to surgical tongue reduction. The purpose of our article is to present a case …
Hypercortisolism due to a pituitary adenoma associated with Beckwith-Wiedemann syndrome
F Brioude, C Nicolas, I Marey, S Gaillard… - Hormone Research in …, 2016 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an
increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region …
increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region …
Guided growth in leg length discrepancy in beckwith-wiedemann syndrome: A consecutive case series
M De Pellegrin, L Brogioni, G Laskow, G Barera… - Children, 2021 - mdpi.com
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by
overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to …
overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to …