1. Toriello-Carey syndrome: Delineation and review
- Author
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Mark S. Lubinsky, Donna M. McDonald-McGinn, Anna Tsai, William Allen, John C. Carey, William B. Dobyns, Renata C. Gallagher, Marc S. Williams, Marie-Claude Addor, Tamison Jewett, Elaine H. Zackai, Roel Hordijk, William G. Newman, Leah W. Burke, Martine LeMerrer, Richard M. Pauli, Rick A. Martin, Nicole Chun, David Wargowsky, Laurie H. Seaver, Gene Hoyme, Mira Irons, Luitgard M. Neumann, Helga V. Toriello, and Ellen R. Elias
- Subjects
Male ,ANOMALIES ,Adolescent ,PHENOTYPE ,2 SIBLINGS ,Marden–Walker syndrome ,MARDEN-WALKER-SYNDROME ,medicine ,Humans ,Abnormalities, Multiple ,Child ,TORIELLO-CAREY SYNDROME ,Genetics (clinical) ,Unusual facial appearance ,Robin Sequence ,Pierre Robin sequence ,Corpus Callosum Agenesis ,Infant, Newborn ,Facies ,Syndrome ,medicine.disease ,Genealogy ,corpus callosum agenesis ,Natural history ,Child, Preschool ,Female ,Agenesis of Corpus Callosum ,Psychology - 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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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. (C) 2003 Wiley-Liss, Inc.
- Published
- 2003
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