title: The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.
abstract: Beckwith-Wiedemann syndrome (BWS) is a congenital disorder of imprinting caused by epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical features are heterogeneous, including macrosomia, macroglossia, hemihyperplasia, abdominal wall defects, neonatal hypoglycemia, and increased risk of embryonal tumors such as Wilms tumor, adrenocortical carcinoma, hepatoblastoma, and neuroblastoma. The molecular and clinical heterogeneity of BWS makes the diagnosis challenging, but essential, since different etiologies of BWS have different clinical prognoses - most crucially, patients with gain of maternal methylation at imprinting control region type 1 (ICR1) are at significant risk of Wilms tumor or hepatoblastoma. We present three cases of BWS with different symptomatology and two different molecular diagnoses. The authors emphasize the importance of molecular studies in the long-term follow-up of children with BWS, including refinement of phenotype-genotype correlation and its connection with optimal management and tumor surveillance.
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Gizewska
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Wilk
authors.forename: Michal
authors.initials: M
authors.lastname: Patalan
authors.forename: Deborah
authors.initials: D
authors.lastname: Mackay
authors.forename: Jaroslow
authors.initials: J
authors.lastname: Peregud-Pegorzelski
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Gawrych
authors.forename: Mieczyslaw
authors.initials: M
authors.lastname: Walczak
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Petriczko
authors.forename: Andrzej
authors.initials: A
authors.lastname: Brodkiewicz
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019175:DNA Methylation; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods*; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009154:Mutation; D013997:Time Factors