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Toriello Carey syndrome
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Overview
Toriello-Carey syndrome is rare genetic condition which was first described in 1988 by Helga V. Toriello and John C. Carey. Although the signs and symptoms of the syndrome may vary from person to person, the condition is generally characterized by corpus callosum agenesis, unusual facial appearance, Pierre Robin sequence, and other anomalies. Treatment is symptomatic.[1]
References
- Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, et al. Am J Med Genet A. 2003 Nov 15. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=14556252%5Buid%5D. Accessed April 17, 2008.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Toriello Carey syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Toriello Carey syndrome. Click on the link to go to OMIM and review these resources.