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Two Infants with Beckwith-Wiedemann Syndrome

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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
Langue:
Anglais
Périodicité:
2 fois par an
Sujets de la revue:
Medicine, Basic Medical Science, other