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  • Title: Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
    Author: Vantrappen G, Rommel N, Devriendt K, Cremers CW, Feenstra L, Fryns JP.
    Journal: Acta Otorhinolaryngol Belg; 2001; 55(1):43-8. PubMed ID: 11256191.
    Abstract:
    The velo-cardio-facial syndrome (VCFS) is a leading cause of velopharyngeal dysfunction and cleft palate and caused by a submicroscopic deletion in the long arm of chromosome 22 (band 22q11). During the last 5 years, 130 patients with a 22q11 deletion were diagnosed in Leuven. Most patients presented a wide variety of the classical features of the velo-cardio-facial syndrome. Velopharyngeal dysfunction was almost always present whereas an isolated cleft lip/palate was observed in a minority of patients. The velopharyngeal function can be evaluated by the classic combination of indirect and direct techniques. Because of the frequent occurrence of the velo-cardio-facial syndrome, estimated at around 1/4000 live births, and given the extremely broad clinical spectrum which makes clinical diagnosis difficult, screening of patients with velopharyngeal dysfunction for a deletion 22q11 is indicated.
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