… of Beckwith-Wiedemann syndrome. This case suggests that Beckwith-Wiedemann syndrome
… in all patients with hepatoblastoma, even in the absence of other phenotypic stigmata. …

… The patient was diagnosed with BeckwithWiedemann Syndrome basing on the phenotypic
clinical features. The patient was scheduled for a long-term follow-up by a multidisciplinary …

… Beckwith-Wiedemann syndrome (BWS: OMIM #130650) and one at chromosome 14q32 in
the imprinted region associated with Temple syndrome (… epigenotype-phenotype correlations, …

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting
disorders manifesting as aberrant fetal growth and severe postnatal-growth-related …

… Some genotype–phenotype correlations are reported. On the one hand, missense mutations
within the DNA-binding domain can exert a dominant-negative effect on the wild-type p53 …

… ●Phenotype-(epi)genotype correlations – A number of genetic and/or epigenetic … .5 are
associated with specific phenotype-(epi)genotype correlations and different recurrence risks. …

… Beckwith (1998a) collated a comprehensive history of overgrowth and related syndromes. …
of an individual with findings suggestive of Beckwith–Wiedemann syndrome (BWS), and a …

… Children with omphalocele have an increased prevalence of Beckwith Wiedemann syndrome
(BWS) and thus a suspected increased risk of developing embryonal tumors, eg Wilms …

… BACKGROUND: Macroglossia is a cardinal feature of Beckwith-Wiedemann syndrome (BWS).
Optimal timing of tongue reduction is debated due to the spectrum of phenotypic severity …

… Silver–Russell and Beckwith–Wiedemann syndromes (SRS, … the diagnostic implementation
of (epi)genome wide assays is … basis for (epi)genotype–phenotype correlations, allowing a …