A new case of Toriello-Carey's syndrome? Autopsy findings and a comparison of the clinical features with other case reports

Paolo Ghirri, M. Vuerich, A. Cuttano, V. Nardini, M. Fantoni, A. Guzzetta, F. Baldinotti, E. Tarantino, A. Boldrini

Research output: Contribution to journalArticlepeer-review

Abstract

The Toriello-Carey's syndrome is a set of multiple congenital anomalies characterized by agenesis of the corpus callosum, telecanthus/hypertelorism, short palpebral fissures, short/small nose, Pierre Robin's sequence, malformed ears, short neck, and cardiac defects. Postnatal growth failure, hypotonia, mental retardation, and early death are also usually reported. The disorder is probably autosomal recessive, although X-linked inheritance or chromosomal rearrangement have been proposed by other authors. We describe a preterm male newborn with typical clinical signs of this condition, showing also some uncommon findings. This newborn manifested a severe phenotype and died at 4 months postnatally. Karyotype and DNA studies were normal. Authorized post-mortem examination confirmed the previous brain Nuclear Magnetic Resonance evidence of both corpus callosum hypoplasia, and cerebral and cerebellar neuronal depletion.

Original languageEnglish
Pages (from-to)184-188
Number of pages5
JournalItalian Journal of Pediatrics
Volume32
Issue number3
Publication statusPublished - 2006

Keywords

  • Congenital heart defect
  • Corpus callosum agenesis
  • Facial dysmorphism
  • Toriello-Carey's syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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