Two Infants with Beckwith-Wiedemann Syndrome

Two Infants with Beckwith-Wiedemann Syndrome

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 impri...

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Veröffentlicht in:Balkan journal of medical genetics 2010-01, Vol.13 (1), p.49-53
Hauptverfasser: Ratbi, I, Elalaoui, S, Sefiani, A
Format: Artikel
Sprache:eng
Schlagworte:
Beckwith-Wiedemann syndrome (BWS)
Imprint
Macroglossia
Newborn
Overgrowth
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Beschreibung
Zusammenfassung: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.
ISSN:1311-0160
2199-5761
DOI:10.2478/v10034-010-0019-3