Evolution of discrepancies in limb asymmetry in Beckwith-Wiedemann spectrum.

ABSTRACT:

Background

Beckwith-Wiedemann spectrum is a genetic disorder characterized by lateralized overgrowth, often presenting as limb bulk discrepancy. While limb-length discrepancies are documented in Beckwith-Wiedemann spectrum, the natural history of limb bulk discrepancy and hand/foot asymmetry progression remains less studied. This research examines limb bulk discrepancy progression in children with Beckwith-Wiedemann spectrum and identifies factors influencing its severity.

Methods

A retrospective, single-institution study analyzed 142 children with molecularly confirmed Beckwith-Wiedemann spectrum (imprinting center 2 loss of methylation, imprinting center 1 gain of methylation, and paternal uniparental isodisomy at chromosome 11). Limb measurements (upper arm, forearm, thig

SUBMITTER: Lopez RD 

PROVIDER: S-EPMC12528058 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature