Velo-cardio-facial syndrome: language and psychological profiles.

TLDR

Velo‑cardio‑facial syndrome is a recurrent malformation syndrome characterized by cleft palate, cardiac defects, distinctive facies, learning disabilities, speech disorders, and a unique pattern of language and personality traits that has not been previously described. The purpose of this report is to add to the phenotype of VCF by describing the language, academic, and psychological profiles of 26 patients. The authors examined 26 VCF patients, assessing their language, academic, and psychological profiles. The study’s findings suggest that detailed profiling of VCF patients can aid differential diagnosis and reveal developmental changes that inform the syndrome’s natural history and prognosis.

Abstract

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.