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., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.46, ss.283-288, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 46 Konu: 3
  • Basım Tarihi: 2004
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.283-288

Özet

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.