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

Balci S., TEKŞEN A. F., DÖKMECİ F., Cengiz B., Comert R., Can B., ...More

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

  • Publication Type: Article / Article
  • Volume: 46 Issue: 3
  • Publication Date: 2004
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.283-288
  • Keywords: Meckel-Gruber syndrome, Dandy-Walker malformation, four consecutive siblings, lobar holoprosencephaly, MRI findings
  • Ankara University Affiliated: Yes

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.