TWO INFANTS WITH BECKWITH-WIEDEMANN SYNDROME
Ratbi I1,2,*, Elalaoui SC1, Sefiani A1,2
*Corresponding Author: Professor? Dr.? Ilham Ratbi, Department of Medical Genetics. National Institute of Health, Rabat, Morocco; 27 Avenue Ibn Battouta, B.P. 769, Rabat, Morocco; Tel.: +212(0)613-58-67-97; Fax: +212(0)537-77-20-67; E-mail: ilhamratbi@yahoo.fr
page: 51
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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.

Keywords: Beckwith-Wiedemann syndrome (BWS), Newborn, Macroglossia, Overgrowth, Imprint





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