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Sphincter pharyngoplasty for the surgical management of speech dysfunction associated with velocardiofacial syndrome.

There are no reports in the literature that document the effectiveness of sphincter pharyngoplasty as a surgical alternative to pharyngeal flap for management of velopharyngeal dysfunction in patients with velocardiofacial syndrome. A retrospective review of patients with velocardiofacial syndrome was undertaken at our tertiary cleft care centre. All patients were managed between 1984 and 1996 at the Cleft Palate and Craniofacial Deformities Institute, St Louis Children's Hospital. Subjects (n = 19) underwent velopharyngeal surgical management on the basis of perceptual speech evaluations and instrumental assessments of inadequate velopharyngeal closure. All patients had a molecular diagnosis of velocardiofacial syndrome based on fluorescent in situ hybridisation analysis of peripheral blood lymphocytes and independent evaluation by a medical geneticist. Surgical outcome was classified as successful if perceptual speech assessment indicated elimination of hypernasality, nasal emission and turbulence, and instrumental assessment indicated 100% velopharyngeal closure. Results showed that 18 of 19 patients were managed successfully with sphincter pharyngoplasty. Our data corroborate that sphincter pharyngoplasty is a reasonable alternative to pharyngeal flap in patients with velopharyngeal dysfunction secondary to velocardiofacial syndrome.

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