Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

JL Cohen, KA Duffy, BJ Sajorda… - American Journal of …, 2019 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous
phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS …

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

D Carli, C Bertola, S Cardaropoli… - Journal of Medical …, 2021 - jmg.bmj.com
Background Most cases of Beckwith-Wiedemann spectrum (BWSp) are diagnosed after birth
and few studies evaluated the prenatal phenotype; here, we investigate these aspects in a …

Beckwith–wiedemann syndrome

R Weksberg, C Shuman, JB Beckwith - European journal of human …, 2010 - nature.com
Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting,
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …

[引用][C] Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome

T Inoue, A Nakamura, K Matsubara… - American Journal of …, 2017 - Wiley Online Library
To the editor Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth
syndrome with various clinical features such as macroglossia, omphalocele, organomegaly …

Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome

F Sun, S Hara, C Tomita, Y Tanoue… - American Journal of …, 2021 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi) genetic
alterations. The incidence of monozygotic (MZ) twins in BWS is higher than in the general …

Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases

C Le Vaillant, C Beneteau, N Chan-Leconte… - … Obstetrique & Fertilite, 2015 - europepmc.org
Objectives Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth
syndrome and has an incidence of 1/13,700. The majority of the cases are diagnosed after …

Beckwith–Wiedemann syndrome in diverse populations

KA Duffy, BJ Sajorda, AC Yu… - American journal of …, 2019 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder
and presents with patients affected by a variety of clinical features. Although genotype …

Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …

Factors associated with preterm delivery in mothers of children with Beckwith–Wiedemann syndrome: a case cohort study from the BWS registry

MF Wangler, AS Chang, KH Moley… - American Journal of …, 2005 - Wiley Online Library
Pregnancy that results in a child with Beckwith–Wiedemann syndrome (BWS) is associated
with preterm delivery. Based on previous case series, we hypothesized that preterm delivery …

Placental Pathology in Beckwith–Wiedemann Syndrome According to Genotype/Epigenotype Subgroups

L Gaillot-Durand, F Brioude, C Beneteau… - Fetal and Pediatric …, 2018 - Taylor & Francis
Objectives: To evaluate the frequency of placental pathological lesions in Beckwith–
Wiedemann syndrome (BWS), an overgrowth disorder that exhibits etiologic molecular …