Update on the Toriello-Carey syndrome.

• 影响指数: 2.578
• 发表时间: 10 2016
• 来源期刊: Am J Med Genet A
• DOI: 10.1002/ajmg.a.37735
• PMID: 27510950
• 文章类型: Journal Article
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Toriello HV,Colley C,Bamshad M

关键词: Pierre Robin anomaly; agenesis corpus callosum; clinical heterogeneity; syndrome delineation

Mesh: Agenesis of Corpus Callosum / diagnosis genetics; Chromosome Aberrations; Craniofacial Abnormalities / diagnosis genetics; Female; Genetic Association Studies; Heart Defects, Congenital / diagnosis genetics; Humans; Limb Deformities, Congenital / diagnosis genetics; Male; Phenotype; Pierre Robin Syndrome / diagnosis genetics; Urogenital Abnormalities / diagnosis genetics

Abstract

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.