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; Laurie Seaver; Anna Tsai; David Wargowsky; Marc Williams; Elaine Zackai

doi:10.1002/ajmg.a.20493

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 journal › Review article › peer-review

33 Scopus citations

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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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 language	English (US)
Pages (from-to)	84-90
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	123 A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.20493
State	Published - Nov 15 2003
Externally published	Yes

Keywords

Corpus callosum agenesis
Pierre Robin sequence

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10.1002/ajmg.a.20493

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Toriello, H. V., Carey, J. C., Addor, M. C., 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., ... Zackai, E. (2003). Toriello-Carey Syndrome: Delineation and Review. American Journal of Medical Genetics, 123 A(1), 84-90. https://doi.org/10.1002/ajmg.a.20493

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. https://doi.org/10.1002/ajmg.a.20493

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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 Anna Tsai and David Wargowsky and Marc Williams and Elaine Zackai",

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doi = "10.1002/ajmg.a.20493",

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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, Anna

AU - Wargowsky, David

AU - Williams, Marc

AU - Zackai, Elaine

PY - 2003/11/15

Y1 - 2003/11/15

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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

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Toriello-Carey Syndrome: Delineation and Review

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