BeckwithWiedemann

Click to editLUCIA PEREZ TURNER. JESSICA Master subtitle style

10/2/12

ASPECTOS GENERALES

10/2/12

EPIDEMIOLOGIA

10/2/12

ETIOLOGIA

10/2/12

GENES

Tamao de la regin:

1 MB : 2 dominios
GEN LONGITUD IGF2 Dominio 20.487 PB , 1: IGF2 H19 2.660 PB H19. KCNQ1OT1 91.671 PB KCNQ1 404.120 PB http://www.ncbi.nlm.nih.gov/Structure/index.shtml CDKNIC 2.548 PB

10/2/12

BASES MOLECULARES

FIGURE 6.Genomic imprinting: the influence of differential methylation in the two sexes. Shweta Biliya and Lee A Bulla, Jr. Experimental Biology and Medicine 2010, 235:139-147. doi: 10.1258/ebm.2009.009251

10/2/12

BeckwithWiedemann Syndrome R.WEKSBERG,* C. SHUMAN, A. SMITHAmerican Journal of Medical Genetics Part C (Semin. Med. Genet.) 137C:1223 (2005). ARTICLE. FIGURE 2..

10/2/12

BeckwithWiedemann Syndrome R.WEKSBERG,* C. SHUMAN, A. SMITHAmerican Journal of Medical Genetics Part C (Semin. Med. Genet.) 137C:1223 (2005). ARTICLE. FIGURE 2..

10/2/12

10/2/12

MANIFESTACIONES CLINICAS

10/2/12

10/2/12

MANIFESTACIONES CLINICAS

10/2/12

DIAGNOSTICO

10/2/12

DIAGNOSTICO PRENATAL
ULTRASONOGRAFIA:

sugestiva a las

24 semanas.

Fig. 1. Ultrasonografa a las 24 semanas de gestacin. Obsrvese aumento de las sombras renales, correspondindose con 35 semanas de gestacin.

Fig. 2. Ultrasonografa a las 24 semanas de gestacin. Macroglosia fetal.

Fig. 3. Ultrasonografa a las 24 semanas de gestacin. Apertura labial mantenida secundaria a macroglosia.

10/2/12

Prenatal Echography Diagnosis of Beckwith-Wiedemann Syndrome.A Case Report.G. Gutirrez Guach, A.Expsito Carralero, TCruz Mario, S. Ballester Quesada.

DIAGNOSTICO PRENATAL

10/2/12

TRATAMIENTO

10/2/12

10/2/12