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      Toriello-Carey syndrome: delineation and review.

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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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

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          Author and article information

          Journal
          Am. J. Med. Genet. A
          American journal of medical genetics. Part A
          Wiley
          1552-4825
          1552-4825
          Nov 15 2003
          : 123A
          : 1
          Affiliations
          [1 ] Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA. helga.toriello@spectrum-health.org
          Article
          10.1002/ajmg.a.20493
          14556252
          6a9949d2-fd17-494e-b548-bd2c96c27efc
          History

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