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impe0096p103 | Growth and Syndromes | IMPE2023

Beckwith-Wiedemann Syndrome with growth failure. An oxymoron or two different diagnoses?

Rothenfusser Anna , Braslavsky Debora , Casali Barbara , A Vishnopolska Sebastian , Andrea Camilletti Maria , Keselman Ana , Gabriela Ballerini Maria , Sanguineti Nora , Martinez Mayer Julian , O Kitzman Jacob , A Camper Sally , Scaglia Paula , Ines Perez-Millan Maria , Ropelato Gabriela , Bergadá Ignacio

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by genetic or epigenetic defects within the chromosome 11p15.5 region. BWS growth pattern with accelerated growth during infancy is widely known, and whenever there is a change in the expected growth, further investigation is warranted.Objective: To describe a patient with BWS and growth failure.Case report:</s...

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impe0096p104 | Growth and Syndromes | IMPE2023

Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

Barbara Casali , Paula Scaglia , Azcoiti María Esnaola , Débora Braslavsky , Nora Sanguineti , Romina Armando , Florencia Villegas , Ana Keselman , Analia Freire , Romina Grinspon , Mariana Vilas , Sandra Rosental , Claudia Arberas , Ignacio Bergadá , Gabriela Ropelato

Introduction: MS-MLPA is a specific and sensitive technique for detecting copy number variants and methylation defects in the regions of interest associated with imprinting diseases as Beckwith-Wiedemann (BWS) and Silver Russell (SRS) syndromes and. Both are growth disorders associated with opposite molecular alterations in the 11p15.5 imprinting locus.Aim: To analyze the diagnostic efficiency of MS-MLPA in a cohort of p...

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IMPE Abstracts

Beckwith-Wiedemann Syndrome with growth failure. An oxymoron or two different diagnoses?

Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

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