Article
(Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome.
Plastic and reconstructive surgery - 1 Dec 2024
Wagner Connor S, Pontell Matthew E, Salinero Lauren K, Barrero Carlos E, Drust William A, Demarchis Madison, Liao Eric C, Kalish Jennifer M, Taylor Jesse A
Abstract excerpt
BACKGROUND: Macroglossia is a cardinal feature of Beckwith-Wiedemann syndrome (BWS) with a clinical spectrum where the indication and timing for surgery remain to be validated. This study leverages a cohort of molecularly characterized patients with BWS to correlate epigenetic diagnosis with phenotype and treatment outcome. METHODS: Patients with BWS seen in consultation for macroglossia from 2009 to 2022 were...
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