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ISSN: 2168-9849

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Review Article

Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes

Pablo Antonio Ysunza1, Ian Jackson Craniofacial1 and Cheryl L Lozon2
1Department of Speech & Language Pathology, Beaumont Health System, Royal Oak, Michigan, USA
2Department of Speech & Language Pathology, Beaumont Health System, Royal Oak, Michigan, USA
Corresponding Author : Pablo Antonio Ysunza
Department of Speech & Language Pathology
Beaumont Health System, Royal Oak, Michigan, USA
Fax: (248)551-4692
E-mail: [email protected]
Received August 13, 2013; Accepted August 26, 2013; Published August 28, 2013
Citation: Ysunza PA, Craniofacial IJ, Lozon CL (2013) Diagnosis and Management of Velopharyngeal Insufficiency Associated with Chromosomal Syndromes. Clon Transgen 2:113. doi:10.4172/2168-9849.1000113
Copyright: © 2013 Ysunza PA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

All congenital structural defects in the body are the result of an error in morphogenesis. Morphogenesis takes place around 25 to 29 days of intrauterine life. Chromosomal syndromes involve a phenotypically significant structural and/or numerical chromosomal abnormality. An insufficient function of the velopharyngeal sphincter induces excessive nasal resonance during speech. This
abnormal resonance is called hypernasality. A deficient seal of the velopharyngeal sphincter creates an airflow leaking into the rhinopharynx, resulting in abnormal air turbulence through the nasal cavities which can be easily perceived and is called nasal emission. Hypernasality and nasal emission are the clinical signs of velopharyngeal insufficiency (VPI). In other words, VPI is the velopharyngeal inability to create an efficient seal during speech. Most chromosomal syndromes cause VPI as a consequence of a cleft palate. However, when patients with a chromosomal abnormality and VPI are being clinically assessed, it is essential to keep in mind that an apparently and morphologically intact uvula and velum do not rule out the possibility of a sub mucous cleft palate. Several chromosomal syndromes can be associated with VPI, including: 22q11.2 deletion syndrome (22q11.2DS) or velocardiofacial syndrome among other names, Opitz G/BBB syndrome (OS), Kabuki syndrome (KS) and Jacobsen syndrome (JS). Pierre – Robin sequence (PRS) can be associated with some chromosomal syndromes. In these ncases, PRS is referred as syndromic PRS. In this paper, the diagnosis and management of VPI in the most common chromosomal syndromes is discussed.

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