title: Toriello-Carey syndrome: delineation and review.
abstract: 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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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.
authors.affiliation: Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA. helga.toriello@spectrum-health.org
authors.forename: Helga V
authors.initials: HV
authors.lastname: Toriello
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.forename: William
authors.initials: W
authors.lastname: Allen
authors.forename: Leah
authors.initials: L
authors.lastname: Burke
authors.forename: Nicole
authors.initials: N
authors.lastname: Chun
authors.forename: William
authors.initials: W
authors.lastname: Dobyns
authors.forename: Ellen
authors.initials: E
authors.lastname: Elias
authors.forename: Renata
authors.initials: R
authors.lastname: Gallagher
authors.forename: Roel
authors.initials: R
authors.lastname: Hordijk
authors.forename: Gene
authors.initials: G
authors.lastname: Hoyme
authors.forename: Mira
authors.initials: M
authors.lastname: Irons
authors.forename: Tamison
authors.initials: T
authors.lastname: Jewett
authors.forename: Martine
authors.initials: M
authors.lastname: LeMerrer
authors.forename: Mark
authors.initials: M
authors.lastname: Lubinsky
authors.forename: Rick
authors.initials: R
authors.lastname: Martin
authors.forename: Donna
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: Luitgard
authors.initials: L
authors.lastname: Neumann
authors.forename: William
authors.initials: W
authors.lastname: Newman
authors.forename: Richard
authors.initials: R
authors.lastname: Pauli
authors.forename: Laurie
authors.initials: L
authors.lastname: Seaver
authors.forename: Anna
authors.initials: A
authors.lastname: Tsai
authors.forename: David
authors.initials: D
authors.lastname: Wargowsky
authors.forename: Marc
authors.initials: M
authors.lastname: Williams
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome