Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome in diverse populations

“…Seven literature cohorts were included for clinical feature analysis. Among the ten identified cohorts, some were excluded if no clinical features were reported (Sasaki et al, ), or if it was not possible to determine the incidence of clinical features in the patients with positive molecular testing (DeBaun et al, ; Lin et al, ). In the Mussa et al () cohort, reported incidence of features as percentages, and it was assumed that all patients were evaluated and the percentage was used to calculate the number of patients affected by each feature (Mussa et al, ).…”

“…The European/North American cohort was composed of patients reported from the Netherlands (Maas et al, ), France (Brioude et al, ), Italy (Mussa et al, , ), United Kingdom (Ibrahim et al, ), Canada (Weksberg et al, ), and the United States (DeBaun et al, ). The Asian cohort was composed of patients reported from China (Luk, ), Japan (Sasaki et al, ), Korea (Lee et al, ), and Taiwan (Lin et al, ).…”

“…A literature search was conducted in PubMed to identify patient cohorts in which (epi)genotype–phenotype correlations were evaluated in patients with BWS between January 2000 and July 2017. Studies with patient cohorts in which the incidence of clinical features in molecularly‐confirmed patients and/or the molecular subtypes of patients were reported were included, and ten cohorts were identified (Brioude et al, ; DeBaun et al, ; Ibrahim et al, ; Lin et al, ; Luk, ; Maas et al, ; Mussa et al, , ; Sasaki et al, ; Weksberg et al, ). Several additional studies were identified that included data from earlier publications, so the earlier publications were excluded to avoid duplicating patients.…”

Síndrome de Beckwith-Wiedemann. Aspectos clínicos y etiopatogénicos de una entidad ejemplo de impronta genómica

“…Presenta un variable y amplio espectro clínico, que incluye los antecedentes de polihidramnios 7 y m a c r o s o m í a p r e n a t a l . 2 -7 Posteriormente, se caracteriza por crecimiento posnatal excesivo, 5 hipotonía, 7 hemangiomas, nevus f l a m m e u s e n l a g l a b e l a , 1 , 4 , 5 , 8 -1 1 pliegue infraorbiatrio, 11 hipoplasia mediofacial, 8,11 macroglosia, [1][2][3][4][5][6][7][8][9][10][11] paladar hendido, 4,8,9,11 sialorrea, prognatismo, 8,11 alteraciones en el pabellón auricular (pliegues e n e l l ó b u l o e i n d e n t a c i o n e s posteriores del hélix, Figura 1), 1,4,8,11 d i s n e a , 8 a n o m a l í a s c a r d í a c a s 4 (cardiomegalia e, infrecuentemente, el síndrome de QT largo), 8 pezones supernumerarios, 11 defectos en la p a r e d a b d o m i n a l ( o n f a l o c e l e , hernia umbilical 1-9 y diástasis de los rectos), 8,10 visceromegalia 3,5,8,10,12 (hígado, páncreas, bazo o riñones), 3,12,13 riñón con médula en esponja, 12 malformaciones urorrenales, 3,4,5 hemihiperplasia corporal,…”

“…E l s í n d r o m e d e B e c k w i t h -W i e d e m a n n ( S B W , O M I M 130650) es la entidad genética de sobrecrecimiento más común. [1][2][3][4][5][6][7][8][9] Fue descrito por primera vez por Beckwith en 1963 y Wiedemann en 1964. 5 Es panétnico, con una razón por sexo de 1:1, 2 y una incidencia aproximada de 1 en 10 000-13 700 nacimientos.…”