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Nature Reviews. Endocrinology Apr 2018Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal... (Review)
Review
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
Topics: Beckwith-Wiedemann Syndrome; Consensus; DNA Copy Number Variations; DNA Methylation; Humans; Molecular Diagnostic Techniques; Neoplasms, Germ Cell and Embryonal; Polymorphism, Single Nucleotide; Prenatal Diagnosis; Reproductive Techniques, Assisted
PubMed: 29377879
DOI: 10.1038/nrendo.2017.166 -
The Pan African Medical Journal 2023
Topics: Humans; Beckwith-Wiedemann Syndrome
PubMed: 37426460
DOI: 10.11604/pamj.2023.45.17.38741 -
European Journal of Human Genetics :... Jan 2010Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to... (Review)
Review
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 important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction.
Topics: Beckwith-Wiedemann Syndrome; Diagnosis, Differential; Genetic Counseling; Genetic Testing; Humans
PubMed: 19550435
DOI: 10.1038/ejhg.2009.106 -
European Journal of Pediatrics Jun 1988The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common... (Review)
Review
The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common manifestations, hence the alternative designation EMG-syndrome. The syndrome carries with it an increased risk of developing specific tumours. One of the more frequent metabolic changes is transient neonatal hypoglycaemia, the result of increased insulin secretion. Inheritance of the syndrome remains uncertain. Most cases are sporadic, but a number of familial cases have been reported. Present evidence suggests that WBS is an autosomal dominant trait with variable expressivity. This review summarizes the abundant literature on the subject and discusses recent molecular genetic developments that may explain the interrelationship between the clinical abnormalities, metabolic disturbances and development of tumours.
Topics: Beckwith-Wiedemann Syndrome; Humans
PubMed: 3044795
DOI: 10.1007/BF00441965 -
Journal of Medical Genetics Jul 1994
Review
Topics: Beckwith-Wiedemann Syndrome; Diagnosis, Differential; Humans; Macroglossia; Prenatal Diagnosis
PubMed: 7966193
DOI: 10.1136/jmg.31.7.560 -
American Journal of Medical Genetics.... Aug 2005Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an... (Review)
Review
Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype-phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre-implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling.
Topics: Beckwith-Wiedemann Syndrome; Chromosome Aberrations; Chromosomes, Human, Pair 11; Genomic Imprinting; Humans; Twins, Monozygotic
PubMed: 16010676
DOI: 10.1002/ajmg.c.30058 -
Neonatal Network : NN May 2017Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. Features characteristic of the BWS phenotype include both physical attributes, such... (Review)
Review
Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. Features characteristic of the BWS phenotype include both physical attributes, such as macroglossia, abdominal wall defects, gigantism, nevus flammeus, visceromegaly, and mid-face hypoplasia, as well as biochemical abnormalities such as hypoglycemia. It is essential for the neonatal nurse to be able to recognize BWS in the patient's early years of life because of the increased frequency of medical complications, malformations, and the increased risk of embryonic malignancies. This article focuses on the presentation of BWS as an aid to early detection.
Topics: Beckwith-Wiedemann Syndrome; Female; Humans; Infant, Newborn; Neonatal Nursing; Neonatal Screening; Pregnancy; Prenatal Diagnosis; Prognosis
PubMed: 28494824
DOI: 10.1891/0730-0832.36.3.129 -
Archivos Argentinos de Pediatria Oct 2018The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum... (Review)
Review
The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum includes pre- and postnatal macrosomia, macroglossia, pinna abnormalities, abdominal wall defects, visceromegaly, and hyperinsulinemic hypoglycemia. This syndrome predisposes to childhood cancer and is caused by diverse genetic and/or epigenetic disorders that usually affect the regulation of genes imprinted on chromosome 11p15.5. The knowledge of (epi) genotype-phenotype correlations has prompted recommendations to propose different health care strategies, including tumor surveillance protocols based on molecular classification, aimed at standardizing clinical practice. The objective of this article is to describe the current status of the Beckwith-Wiedemann syndrome, a model of genomic imprinting.
Topics: Beckwith-Wiedemann Syndrome; Child; Genetic Predisposition to Disease; Genomic Imprinting; Genotype; Humans; Neoplasms; Phenotype
PubMed: 30204990
DOI: 10.5546/aap.2018.eng.368 -
Italian Journal of Pediatrics Sep 2023Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of... (Review)
Review
BACKGROUND
Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the prevalence of the condition in twins (1:1000) is ten times higher than in singletones (1:10000).
CASE PRESENTATION
We report the case of a premature twin patient who during her follow-up develops a clinical phenotype compatible with BWS, genetically confirmed in blood. However, the methylation alteration characteristic of the condition was also found in the almost phenotypically normal sibling, making it challening her management.
CONCLUSION
Through our case report we highlight how the diagnosis of BWS can be made without any prenatal suspicion and we propose a review of the literature on how to manage siblings of affected patients in twinning situation.
Topics: Female; Child; Pregnancy; Humans; Beckwith-Wiedemann Syndrome; Genotype; Phenotype; Siblings; Twins
PubMed: 37749604
DOI: 10.1186/s13052-023-01530-8 -
American Journal of Medical Genetics.... Apr 2019Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although...
Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth disorder and presents with patients affected by a variety of clinical features. Although genotype-phenotype correlations have been demonstrated in BWS and although BWS has been reported to occur equally among racial and ethnic backgrounds, no study to date has evaluated the frequency of findings in different backgrounds. In this study, we evaluated the incidence of clinical features and molecular diagnoses among patients with BWS in Caucasian, Mixed, and non-Caucasian groups. These results suggest that clinical features and molecular diagnoses differ between race/ethnicity groups and raise the possibility of race and ethnicity effects on genotype-phenotype correlations in BWS.
Topics: Beckwith-Wiedemann Syndrome; DNA Methylation; Ethnicity; Female; Genetic Association Studies; Genomic Imprinting; Humans; Infant, Newborn; Male; Pennsylvania
PubMed: 30719840
DOI: 10.1002/ajmg.a.61053