The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications.
The velo-cardio-facial syndrome (VCFS), due to a deletion in chromosome 22 on its long arm (22q11), is a leading cause of velopharyngeal dysfunction and cleft palate. With the recent finding of a deletion on chromosome 22q11 in these patients with velopharyngeal dysfunction, a routine test is available making the diagnosis of VCFS much more frequent than previously thought.
Vantrappen
G
G
Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
Rommel
N
N
Cremers
C W
CW
Devriendt
K
K
Frijns
J P
JP
D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000235:genetics*