Prenatal ultrasound diagnosis of Toriello-Carey syndrome

Dario Paladinil, Maria Giovanna Russo, Antonio Tartaglione, Annamaria Loffredo, Pasquale Martinelli

Research output: Contribution to journalArticlepeer-review

Abstract

Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello-Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello-Carey syndrome is feasible in the second trimester of pregnancy.

Original languageEnglish
Pages (from-to)1185-1187
Number of pages3
JournalPrenatal Diagnosis
Volume22
Issue number13
DOIs
Publication statusPublished - Dec 2002

Keywords

  • Agenesis of the corpus callosum
  • Congenital heart disease
  • Prenatal diagnosis
  • Spongious cardiomyopathy
  • Toriello-Carey syndrome
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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