Title: Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience
Authors: Vantrappen, Greta ×
Rommel, Nathalie
Devriendt, Koenraad
Cremers, Cornelis
Feenstra, Louw
Fryns, Jean-Pierre #
Issue Date: Mar-2001
Series Title: Acta Oto-Rhino-Laryngologica Belgica vol:55 issue:1 pages:43-8
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.
ISSN: 0001-6497
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group Experimental Oto-rhino-laryngology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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