Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Abstract This Consensus Statement summarizes recommendations for clinical diagnosis,
investigation and management of patients with Silver–Russell syndrome (SRS), an …

Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically
opposite growth-affecting disorders belonging to the group of congenital imprinting …

Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily
affecting growth, development, and the hormonal and metabolic systems. The aim of present …

Context Data on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and
methods Retrospective observational study including twenty-three SRS patients [11p15 loss …

Context There is little information on the long-term natural history of Silver-Russell syndrome
(SRS). Objective To describe the phenotypes and metabolic status in adults with SRS …

Objective To evaluate the association between prenatally detected isolated ventricular
septum defects (VSDs) and chromosomal aberrations in a nationwide study in Denmark …

Defects of 11p15. 5 imprinting result in two growth disorders with opposite phenotypes:
Beckwith–Wiedemann syndrome (BWS) characterized by overgrowth and Silver–Russell …

Introduction Paternal uniparental disomy of chromosome 11 (upd (11) pat) accounts for up to
20% of molecularly confirmed Beckwith-Wiedemann spectrum (BWSp) cases. It belongs to …