Toriello-Carey syndrome: delineation and review.
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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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.
Toriello
Helga V
HV
Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA. helga.toriello@spectrum-health.org
Carey
John C
JC
Addor
Marie-Claude
MC
Allen
William
W
Burke
Leah
L
Chun
Nicole
N
Dobyns
William
W
Elias
Ellen
E
Gallagher
Renata
R
Hordijk
Roel
R
Hoyme
Gene
G
Irons
Mira
M
Jewett
Tamison
T
LeMerrer
Martine
M
Lubinsky
Mark
M
Martin
Rick
R
McDonald-McGinn
Donna
D
Neumann
Luitgard
L
Newman
William
W
Pauli
Richard
R
Seaver
Laurie
L
Tsai
Anna
A
Wargowsky
David
D
Williams
Marc
M
Zackai
Elaine
E
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