Article
Trends in Blood Mosaicism and Clinical Phenotype Score in Patients with Beckwith-Wiedemann Syndrome Evaluated for Tongue Reduction Surgery.
Plastic and reconstructive surgery - 1 Mar 2025
Romeo Dominic J, Wagner Connor S, Massenburg Benjamin B, Reddy Neil, Wu Meagan, Ng Jinggang J, DeMarchis Madison, Liao Eric C, Kalish Jennifer M, Taylor Jesse A
Abstract excerpt
BACKGROUND: Most patients with Beckwith-Wiedemann syndrome (BWS) have macroglossia, with some requiring tongue reduction surgery (TRS). This study reports correlations between levels of affected cells (mosaicism) and BWS clinical score in patients evaluated for TRS. The authors also show correlations of clinical score and mosaicism with obstructive sleep apnea (OSA) severity. METHODS: Blood mosaicism levels and...
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