Toriello-Carey Syndrome: Delineation and Review

Helga V. Toriello, John C. Carey, Marie Claude Addor, William Allen, Leah Burke, Nicole Chun, William Dobyns, Ellen Elias, Renata Gallagher, Roel Hordijk, Gene Hoyme, Mira Irons, Tamison Jewett, Martine LeMerrer, Mark Lubinsky, Rick Martin, Donna McDonald-McGinn, Luitgard Neumann, William Newman, Richard PauliLaurie Seaver, Anna Tsai, David Wargowsky, Marc Williams, Elaine Zackai

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations


Toriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by Lacombe et al. [1992: Am J Med Genet 42:374-376]. Since then, 11 reports describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history.

Original languageEnglish (US)
Pages (from-to)84-90
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume123 A
Issue number1
StatePublished - Nov 15 2003
Externally publishedYes


  • Corpus callosum agenesis
  • Pierre Robin sequence


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