[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].
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.
Lapunzina Badía
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P
Servicio de Genética Médica, Hospital Universitario La Paz, Madrid, Spain. plapunzina.hulp@salud.madrid.org
del Campo Casanelles
M
M
Delicado Navarro
A
A
Fernández-Toral
J
J
García-Alix
A
A
García-Guereta
L
L
Pérez Jurado
L A
LA
Ramos Fuentes
F J
FJ
Sánchez Díaz
A
A
Urioste Azcorra
M
M
D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn