Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in fourth one being diagnosed prenatally at 22 weeks of gestation


Balci S., Teksen F., Dokmeci F., Cengiz B., Comert R., Can B., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.46, no.3, pp.283-288, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 3
  • Publication Date: 2004
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.283-288

Abstract

We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys were also noted at postmortem investigation.