Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
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.
Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Leuven.
G
G
Vantrappen
N
N
Rommel
K
K
Devriendt
C W
CW
Cremers
L
L
Feenstra
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001530:Belgium / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D002658:Developmental Disabilities / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010375:Pedigree; D012017:Referral and Consultation; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*