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  • Title: Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.
    Author: Vantrappen G, Rommel N, Swillen A, Cremers CW, Fryns JP, Devriendt K.
    Journal: Acta Otorhinolaryngol Belg; 2003; 57(2):101-6. PubMed ID: 12836465.
    Abstract:
    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.
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