Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis

Gabriele Tonni, Giovanni Centini, Maria Paola Bonasoni, Alessandro Ventura, Pierpaolo Pattacini, Pietro Cavalli

Research output: Contribution to journalArticlepeer-review

Abstract

Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.

Original languageEnglish
Pages (from-to)379-387
Number of pages9
JournalFetal and Pediatric Pathology
Volume31
Issue number6
DOIs
Publication statusPublished - Dec 2012

Keywords

  • Acrania
  • Folate metabolism pathway analysis
  • Hypospadias
  • Magnetic resonance imaging
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

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