
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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INTRODUCTION
Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is a rare congenital growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors, midline abdominal wall defects, neonatal hypoglycemia and ear creases or ear pits, adrenocortical cytomegaly, and renal abnormalities [1-4]. It is estimated that BWS affects 1 in 13,700 newborns [5]. Most affected children do not have all of these symptoms, while other children have different findings such as hemihypertrophy, moderate/severe developmental delay, congenital heart defects, polydactyly and cleft palate [3]. Beckwith-Wiedemann syndrome is a multi genetic disorder caused by dysregulation of gene expression in the imprinted 11p15 chromosomal region [6,7]. We report on two male Moroccan newborn infants hospitalized for macroglossia and breathing difficulties associated with other malformations characteristic of BWS.
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