Toriello-Carey syndrome: report of a new case

Clin Dysmorphol. 1993 Jul;2(3):260-3.

Abstract

Toriello-Carey syndrome is a malformation syndrome characterized by cranio-facial defects, visceral defects, congenital heart defects, hypotonia, and postnatal growth retardation. To our knowledge, only five patients with this condition have been reported. We describe another case of the Toriello-Carey syndrome extending the phenotypic manifestations of the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum
  • Child, Preschool
  • Developmental Disabilities / genetics
  • Ear / abnormalities
  • Facial Bones / abnormalities
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Larynx / abnormalities
  • Pharynx / abnormalities
  • Skull / abnormalities
  • Syndrome