| Literature DB >> 14556252 |
Helga V Toriello1, 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.
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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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. Copyright 2003 Wiley-Liss, Inc.Entities:
Mesh：
Year: 2003 PMID： 14556252 DOI： 10.1002/ajmg.a.20493
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802