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[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]
P Lapunzina Badía1, M del Campo Casanelles, A Delicado Navarro
1Servicio de Genética Médica, Hospital Universitario La Paz, Madrid, Spain. plapunzina.hulp@salud.madrid.org
Abstract:
Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.
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