Golding-Kushner K J, Weller G, Shprintzen R J
J Craniofac Genet Dev Biol. 1985;5(3):259-66.
The velo-cardio-facial syndrome (VCF) has been delineated as a relatively common recurrent-pattern malformation syndrome of clefting. As originally described, the syndrome's major features are clefting of the secondary palate, cardiac anomalies, characteristic facies, learning disabilities, and speech disorders. As characteristic of the syndrome, however, is a rather distinctive pattern of language disorders and personality characteristics that has not been previously described. The purpose of this report is to add to the phenotype of the velo-cardio-facial syndrome by providing a description of the language, academic, and psychological profiles of 26 patients. This information would prove useful in the process of differential diagnosis. Striking observations concerning changes manifest during the course of development from initial language acquisition through childhood and adolescence will also add to the information regarding this syndrome's natural history and prognosis.
腭心面综合征(VCF)已被描述为一种相对常见的复发性腭裂畸形综合征。最初描述时,该综合征的主要特征是继发腭裂开、心脏异常、特征性面容、学习障碍和言语障碍。然而,该综合征的特征还包括一种此前未被描述过的相当独特的语言障碍和人格特征模式。本报告的目的是通过描述26例患者的语言、学业和心理状况,补充腭心面综合征的表型。这些信息在鉴别诊断过程中将被证明是有用的。关于从最初语言习得直至童年和青少年期发育过程中所表现出的变化的显著观察结果,也将补充有关该综合征自然史和预后的信息。