Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

Prenat Diagn. 2002 May;22(5):404-7. doi: 10.1002/pd.327.

Abstract

A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler, which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Agenesis of Corpus Callosum*
  • Brain Diseases / complications
  • Brain Diseases / diagnostic imaging*
  • Female
  • Humans
  • Pregnancy
  • Thanatophoric Dysplasia / complications
  • Thanatophoric Dysplasia / pathology*
  • Ultrasonography, Prenatal*