Velocardiofacial Syndrome - 06/09/11
Résumé |
Velocardiofacial syndrome (VCFS) is one of the most common multiple-anomaly syndromes in humans, possibly second in frequency only to Down syndrome.23 With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, VCFS may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with VCFS look essentially normal (although the facies is characteristic), making identification of the syndrome difficult, especially in infants (Figure 1). Therefore, it is critical for otolaryngologists to be familiar with the symptom complex associated with VCFS so as to understand the unique manifestations of this complex disorder.
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| Address reprint requests to Robert J. Shprintzen, PhD, Upstate Medical University, 750 East Adams Street, Jacobsen Hall 714, Syracuse, NY 13210 This work was funded in part by NIH grant N.I.H. PO1 ND34980. |
Vol 33 - N° 6
P. 1217-1240 - décembre 2000 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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