Toriello-Carey syndrome: delineation and review.

Détails

ID Serval
serval:BIB_CD597034003C
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Toriello-Carey syndrome: delineation and review.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
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., Pauli R., Seaver L., Tsai A., Wargowsky D., Williams M., Zackai E.
ISSN
1552-4825
Statut éditorial
Publié
Date de publication
2003
Peer-reviewed
Oui
Volume
123A
Numéro
1
Pages
84-90
Langue
anglais
Notes
Publication types: Journal Article
Résumé
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describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review.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.
Mots-clé
Abnormalities, Multiple/genetics, Adolescent, Child, Child, Preschool, Corpus Callosum/abnormalities, Facies, Female, Humans, Infant, Newborn, Male, Syndrome
Pubmed
Web of science
Création de la notice
28/02/2008 12:52
Dernière modification de la notice
20/08/2019 16:48
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