Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.
The Velo-Cardio-Facial Syndrome (VCFS), caused by a submicroscopic deletion in the long arm of chromosome 22, has a broad clinical spectrum of ENT manifestations including for instance velopharyngeal dysfunction, hearing problems and laryngotracheal anomalies. In the current report we present guidelines for diagnosis, treatment and follow-up of the ENT manifestations in patients with a deletion 22q11, based on our experience and the literature.
Vantrappen
G
G
Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospitals, Leuven, Belgium. greta.vantrappen@uz.kuleuven.ac.be
Rommel
N
N
Swillen
A
A
Cremers
C W
CW
Fryns
J P
JP
Devriendt
K
K
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D005145:Face / Q000002:abnormalities; D005500:Follow-Up Studies; D034381:Hearing Loss / Q000151:congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000235:genetics; D015997:Neonatal Screening / Q000592:standards*; D017410:Practice Guidelines as Topic; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*