Update on the Toriello-Carey syndrome.

TitleUpdate on the Toriello-Carey syndrome.
Publication TypeJournal Article
Year of Publication2016
AuthorsToriello, HV, Colley, C, Bamshad, M
JournalAm J Med Genet A
Date Published2016 10
KeywordsAgenesis of Corpus Callosum, Chromosome Aberrations, Craniofacial Abnormalities, Female, Genetic Association Studies, Heart Defects, Congenital, Humans, Limb Deformities, Congenital, Male, Phenotype, Pierre Robin Syndrome, Urogenital Abnormalities

Toriello and Carey described a provisionally-unique syndrome comprised of agenesis of the corpus callosum, Pierre Robin anomaly, and a characteristic facial phenotype. Because the condition affected siblings, this entity was postulated to be an autosomal recessive multiple anomaly syndrome. Several patients were subsequently reported, and over time, it became apparent that the Toriello-Carey syndrome was etiologically heterogeneous. Based on previous reports, it is estimated that at least 20% of patients with a clinical diagnosis of Toriello-Carey syndrome have a chromosomal anomaly as the basis of the phenotype. However, no basis for the non-chromosomal cases has been found. This review summarizes the literature to date and provides speculation regarding the possible explanations for failing to find the cause of Toriello-Carey syndrome. © 2016 Wiley Periodicals, Inc.

Alternate JournalAm. J. Med. Genet. A
PubMed ID27510950
Grant ListU54 HG006493 / HG / NHGRI NIH HHS / United States