2010-11-08-11 Beckwith-Wiedemann syndrome © Reuss www.TheFetus.net
Annette Reuss, MD.
Praxis Central, Willy-Brandt-Platz 4 - 45127 Essen, Germany.
Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
Beckwith-Wiedemann syndrome is an overgrowth disorder characterized mainly by macrosomia, macroglossia, visceromegaly, embryonal tumors, omphalocele, hemihyperplasia, renal abnormalities and adrenal cytomegaly. There other minor findings including enlarged amount of the amniotic fluid, hemangioma, prematurity, cardiomegaly, ear creases and etc.
The disease is associated with abnormal transcription and regulation of genes on chromosome 11p15.5.
The macroglossia can cause airway obstruction and breathing difficulties after delivery. Neonate is at increased risk of hypoglycemia.
The prognosis of this condition is very good. The risk of cancer is increased, especially until the age of 4. The common tumors which can appear are Wilms tumor and hepatoblastoma.
Following image show macroglossia, typical finding for this condition.
Images 1,2: Image 1 shows a 3D-image of the enlarged tongue. Image 2 shows a image of the tongue after delivery. Note that both images correspond to each other.