<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

Two Infants with Beckwith-Wiedemann Syndrome

Department of Medical Genetics, National Institute of Health, Rabat, Morocco

Laboratory of Human Genomics, Faculty of Medicine and Pharmacy, University Mohammed V Souissi, Rabat, Morocco

Balkan Journal of Medical Genetics

{"article-title":"Two Infants with Beckwith-Wiedemann Syndrome"}

Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is an overgrowth disorder characterized by macrosomia, macroglossia, organomegaly and developmental...

Two Infants with Beckwith-Wiedemann Syndrome

Pubblicato online: 25 ago 2010

Pagine: 49 - 53

DOI: https://doi.org/10.2478/v10034-010-0019-3

Parole chiave
Beckwith-Wiedemann syndrome (BWS), Newborn, Macroglossia, Overgrowth, Imprint

This content is open access.

Two Infants with Beckwith-Wiedemann Syndrome

Pubblicato online: 25 ago 2010

Pagine: 49 - 53

DOI: https://doi.org/10.2478/v10034-010-0019-3

Parole chiaveBeckwith-Wiedemann syndrome (BWS), Newborn, Macroglossia, Overgrowth, Imprint

This content is open access.

Parole chiave
Beckwith-Wiedemann syndrome (BWS), Newborn, Macroglossia, Overgrowth, Imprint