Beckwith-Wiedemann syndrome: An update and review for the primary pediatrician
EY Weng, GR Mortier, JM Graham Jr - Clinical pediatrics, 1995 - journals.sagepub.com
EY Weng, GR Mortier, JM Graham Jr
Clinical pediatrics, 1995•journals.sagepub.comIntroduction eckwith-Wiedemann syndrome (BWS) is a com-mon genetic overgrowth
syndrome that is associated with visceromegaly, macroglossia, ab-dominal wall defects, pre-
and postnatal overgrowth, and neona-tal hypoglycemia. Exomphalos, macroglossia, and
gigantism are considered the characteristic diag-nostic triad of findings; hence, it is also
known as EMG-syndrome. Other distinctive features include earlobe creases and pits, facial
nevus flammeus, and prominent eyes with infraorbital creases. Recogni-tion of BWS is …
syndrome that is associated with visceromegaly, macroglossia, ab-dominal wall defects, pre-
and postnatal overgrowth, and neona-tal hypoglycemia. Exomphalos, macroglossia, and
gigantism are considered the characteristic diag-nostic triad of findings; hence, it is also
known as EMG-syndrome. Other distinctive features include earlobe creases and pits, facial
nevus flammeus, and prominent eyes with infraorbital creases. Recogni-tion of BWS is …
Introduction eckwith-Wiedemann syndrome (BWS) is a com-mon genetic overgrowth syndrome that is associated with visceromegaly, macroglossia, ab-dominal wall defects, pre-and postnatal overgrowth, and neona-tal hypoglycemia. Exomphalos, macroglossia, and gigantism are considered the characteristic diag-nostic triad of findings; hence, it is also known as EMG-syndrome.
Other distinctive features include earlobe creases and pits, facial nevus flammeus, and prominent eyes with infraorbital creases. Recogni-tion of BWS is important because of the associated risk for develop-ment of embryonal neoplasms af-fecting abdominal organs, the need for prompt treatment of neo-natal hypoglycemia, and for purposes of genetic counseling. The
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