Velocardiofacial syndrome - a syndrome with many faces

Abstract

Velocardiofacial Syndrome (VCFS) can present with many different features. In this paper we review some of these features: working memory deficits, dysmorphic features, co-morbid obsessive compulsive disorder (OCD), early deviant behaviour, functional impairment, and early age of onset of schizophrenia. Some uncommon features found in the five patients studied are discussed. Genetic counselling in these patients and what the future holds in terms of treatment are mentioned. Patients with VCFS can have covert symptoms that can easily be overlooked. For this reason, guidelines to the detection of the abnormalities in these patients are given. The patients whose cases are reviewed are five patients who were diagnosed with VCFS during an ongoing genetic project on the study of schizophrenia in the Afrikaner founder population.

Van laboratoriumbank tot siekbed: Genetiese bevindings in skisofrenie

“…Vroeë gedragsafwykings en inkorting van die werkende geheue was prominente simptome in al die pasiënte. Daar was ook ander psigopatologie, insluitend patologiese lagsindroom, 'n familiegeskiedenis van kraniostenose, asook een pasiënt wat 'n laat aanvang van psigose gehad het (Lombard & Roos 2011). …”

“…Toepaslike kliniese hantering is belangrik, want hierdie tipe skisofrenie het 'n swakker prognose en toepaslike genetiese raadgewing is ook belangrik (Lombard & Roos 2011).…”