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Two Infants with Beckwith-Wiedemann Syndrome

Balkan Journal of Medical Genetics

Volume 13 (2010): Issue 1 (June 2010)

By: I Ratbi, S Elalaoui and A Sefiani

Open Access

|Aug 2010

Abstract

Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is an overgrowth disorder characterized by macrosomia, macroglossia, organomegaly and developmental abnormalities (in particular abdominal wall defects with exomphalos) and a multi genetic disorder caused by dysregulation of genes expressed in the imprinted 11p15 chromosomal region. We report two unrelated male Moroccan firstborn infants who were hospitalized for macroglossia with breathing difficulties associated with other malformations indicative of BWS.

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Articles in this issue

DOI: https://doi.org/10.2478/v10034-010-0019-3 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 49 - 53

Published on: Aug 25, 2010

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Beckwith-Wiedemann syndrome (BWS),

Related subjects:

Basic medical science,

Basic medical science, other

© 2010 I Ratbi, S Elalaoui, A Sefiani, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 13 (2010): Issue 1 (June 2010)