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 Pauli & 5 others Laurie Seaver, Anne Tsai, David Wargowsky, Marc Williams, Elaine Zackai

Research output: Contribution to journalArticle

32 Citations (Scopus)

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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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.

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

Fingerprint

Viverridae
Pierre Robin Syndrome
Agenesis of Corpus Callosum
Natural History
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Wells syndrome

Keywords

  • Corpus callosum agenesis
  • Pierre Robin sequence

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Toriello, H. V., Carey, J. C., Addor, M. C., Allen, W., Burke, L., Chun, N., ... Zackai, E. (2003). Toriello-Carey Syndrome: Delineation and Review. American Journal of Medical Genetics, 123 A(1), 84-90.

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

In: American Journal of Medical Genetics, Vol. 123 A, No. 1, 15.11.2003, p. 84-90.

Research output: Contribution to journalArticle

Toriello, HV, Carey, JC, Addor, MC, Allen, W, Burke, L, Chun, N, Dobyns, W, Elias, E, Gallagher, R, Hordijk, R, Hoyme, G, Irons, M, Jewett, T, LeMerrer, M, Lubinsky, M, Martin, R, McDonald-McGinn, D, Neumann, L, Newman, W, Pauli, R, Seaver, L, Tsai, A, Wargowsky, D, Williams, M & Zackai, E 2003, 'Toriello-Carey Syndrome: Delineation and Review', American Journal of Medical Genetics, vol. 123 A, no. 1, pp. 84-90.
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N et al. Toriello-Carey Syndrome: Delineation and Review. American Journal of Medical Genetics. 2003 Nov 15;123 A(1):84-90.
Toriello, Helga V. ; Carey, John C. ; Addor, Marie Claude ; Allen, William ; Burke, Leah ; Chun, Nicole ; Dobyns, William ; Elias, Ellen ; Gallagher, Renata ; Hordijk, Roel ; Hoyme, Gene ; Irons, Mira ; Jewett, Tamison ; LeMerrer, Martine ; Lubinsky, Mark ; Martin, Rick ; McDonald-McGinn, Donna ; Neumann, Luitgard ; Newman, William ; Pauli, Richard ; Seaver, Laurie ; Tsai, Anne ; Wargowsky, David ; Williams, Marc ; Zackai, Elaine. / Toriello-Carey Syndrome : Delineation and Review. In: American Journal of Medical Genetics. 2003 ; Vol. 123 A, No. 1. pp. 84-90.
@article{ef906eb0334848199062b19d74ddaa06,
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.",
keywords = "Corpus callosum agenesis, Pierre Robin sequence",
author = "Toriello, {Helga V.} and Carey, {John C.} and Addor, {Marie Claude} and William Allen and Leah Burke and Nicole Chun and William Dobyns and Ellen Elias and Renata Gallagher and Roel Hordijk and Gene Hoyme and Mira Irons and Tamison Jewett and Martine LeMerrer and Mark Lubinsky and Rick Martin and Donna McDonald-McGinn and Luitgard Neumann and William Newman and Richard Pauli and Laurie Seaver and Anne Tsai and David Wargowsky and Marc Williams and Elaine Zackai",
year = "2003",
month = "11",
day = "15",
language = "English (US)",
volume = "123 A",
pages = "84--90",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Toriello-Carey Syndrome

T2 - Delineation and Review

AU - Toriello, Helga V.

AU - Carey, John C.

AU - Addor, Marie Claude

AU - Allen, William

AU - Burke, Leah

AU - Chun, Nicole

AU - Dobyns, William

AU - Elias, Ellen

AU - Gallagher, Renata

AU - Hordijk, Roel

AU - Hoyme, Gene

AU - Irons, Mira

AU - Jewett, Tamison

AU - LeMerrer, Martine

AU - Lubinsky, Mark

AU - Martin, Rick

AU - McDonald-McGinn, Donna

AU - Neumann, Luitgard

AU - Newman, William

AU - Pauli, Richard

AU - Seaver, Laurie

AU - Tsai, Anne

AU - Wargowsky, David

AU - Williams, Marc

AU - Zackai, Elaine

PY - 2003/11/15

Y1 - 2003/11/15

N2 - 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.

AB - 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.

KW - Corpus callosum agenesis

KW - Pierre Robin sequence

UR - http://www.scopus.com/inward/record.url?scp=10744229576&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10744229576&partnerID=8YFLogxK

M3 - Article

VL - 123 A

SP - 84

EP - 90

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -