Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome

Abstract

Wiedemann‐Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased risk of developing rare embryonal cell tumors. To date, 15 monozygotic (MZ) twin pairs have been reported of which 13 are discordant for WBS. All except one pair of the discordant WBS twin pairs have been female. We report two pairs of male MZ twins, each discordant for WBS. © 1996 Wiley‐Liss, Inc.

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report

“…The high frequency of severe abdominal wall defects in centromeric cases is consistent with the hypothesis that genes expressed by the centromeric domain (IC2), containing also KCNQ1OT1 and hypomethylated in the newborn here described, are involved in normal midline development . The incidence of WBS is increased in MT, particularly in the female ones , due to the ART pregnancies . An increased rate of EA with or without tracheoesophageal fistula in twins is reported in several studies .…”

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

“…The twin pairs in our M0 cohort raise the possibility of a causal relationship or a shared aetiology with twinning such as that described for other phenotypes including Beckwith–Wiedemann24 25 and Goldenhar syndromes26 and symmelia 27. However, we identified no patterns among the M0 twin pregnancies to indicate a causal relationship between twinning and EVA (supplemental table S2 available online).…”

Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

“…In addition, the association of BWS with monozygotic twins of discordant phenotype is well reported, with the majority of these twins being female. [8][9][10][11][12][13] BWS has a frequency of 1/13 700 live births and is sporadic in most cases. 14 The most consistent features of the syndrome are macrosomia, macroglossia, abdominal wall defects, hemihypertrophy, and increased risk of embryonal tumours including Wilms tumour.…”