Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-gbm5v Total loading time: 0 Render date: 2024-12-24T13:33:17.231Z Has data issue: false hasContentIssue false

4 - Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome

Published online by Cambridge University Press:  11 August 2009

By
Richard E. Kirschner
Edited by
Kieran C. Murphy  and
Peter J. Scambler
Richard E. Kirschner
Affiliation:
Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, PA, USA
Kieran C. Murphy
Affiliation:
Education and Research Centre, Royal College of Surgeons of Ireland
Peter J. Scambler
Affiliation:
Institute of Child Health, University College London
Get access

Summary

Structural and functional palatal anomalies are among the most common manifestations in VCFS, with cleft lip, cleft palate, and velopharyngeal dysfunction reported as features of affected patients. Up to 8% of patients with isolated palatal clefts, including submucosal clefts, may have an underlying 22q11 deletion, making this the most common genetic syndrome associated with palatal clefts. Moreover, 22q11 deletions have been identified as the most common genetic basis of congenital velopharyngeal dysfunction.

The high incidence of cleft palate and velopharyngeal dysfunction associated with VCFS makes many affected children candidates for palatal or velopharyngeal surgery. This chapter describes the spectrum of palatal phenotypes associated with VCFS and presents guidelines for their diagnosis and surgical management.

Cleft palate and VCFS

Defining the palatal phenotype in VCFS

Palatal anomalies are frequently associated with other congenital malformations and may be seen as features of numerous genetic syndromes. Occasionally, cleft palate or velopharyngeal dysfunction may be the first and most conspicuous presenting sign of a genetic disorder, whereas the associated features and the underlying syndrome remain undiagnosed for many years. In other instances, more severe or life-threatening anomalies may command the clinicians' immediate attention, leaving more subtle palatal abnormalities unrecognized. Since early syndrome recognition is essential to provide for appropriate early intervention and for appropriate family genetic counseling, clinicians caring for children with syndromic disorders should possess a thorough understanding of the phenotypic features of these diagnoses.

Keywords

22q11 deletionFurlow's methodmirror-image Z-plasty incisionpalatal anomaliesvelopharyngeal dysfunctionvelopharyngeal valving systempalatal phenotypevelo-cardio-facial syndrome
Type
Chapter
Information
Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
 , pp. 83 - 104
Publisher: Cambridge University Press
Print publication year: 2005

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Albery, E. H., Bennett, J. A., Pigott, R. W. & Simmons, R. M. (1982) The results of 100 operations for velopharyngeal incompetence – selected on the findings of endoscopic and radiological examination. Br. J. Plast. Surg., 30, 118–26.Google Scholar
Argamaso, R. V. (1995) Pharyngeal flap surgery for velopharyngeal insufficiency. Oper. Tech. Plast. Surg., 2, 233–8.Google Scholar
Arvystas, M. & Shprintzen, R. J. (1984) Craniofacial morphology in the velo-cardio-facial syndrome. J. Craniofac. Genet. Dev. Biol., 4, 39–45.Google Scholar
Brondum-Nielson, K. & Christensen, K. (1996) Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects, and/or mental disability: A survey based on the Danish Facial Cleft Registrar. Clin. Genet. 50, 116–20.Google Scholar
Cohen, E., Chow, E. W., Weksberg, R. & Bassett, A. S. (1999) Phenotype of adults with the 22q11 deletion syndrome: A review. Am. J. Med. Genet., 86, 359–65.Google Scholar
Croft, C. B., Shprintzen, R. J., Daniller, A. & Lewin, M. L. (1978) The occult submucous cleft palate and the musculus uvulae. Cleft Palate J., 15, 150–4.Google Scholar
Cutting, C. B., Rosenbaum, J. & Rovati, L. (1995) The technique of muscle repair in the cleft soft palate. Oper. Tech. Plast. Reconst. Surg., 2, 215–22.Google Scholar
D'Antonio, L. L., Davio, M., Zoller, K.et al. (2001) Results of Furlow Z-plasty in patients with velocardiofacial syndrome. Plast. Reconstr. Surg., 107, 1077–9.Google Scholar
Dorf, D. S. & Curtin, J. W. (1982) Early cleft palate repair and speech outcome. Plast. Reconstr. Surg. 70, 74–9.Google Scholar
Dorf, D. S. & Curtin, J. W.(1990) Early cleft palate repair and speech outcome: A ten-year experience. In Bardach, J. & Morris, H. L., eds., Multidisciplinary Management of Cleft Lip and Palate. Philadelphia: W. B. Saunders, pp. 341–8.
Driscoll, D., Randall, P., McDonald-McGinn, D. M. et al. (1995). Are 22q11 deletions a major cause of isolated cleft palate? Presented at the 52nd annual meeting of the American Cleft Palate-Craniofacial Association, Tampa, FL.
Finkelstein, Y., Zohar, Y., Nachmani, A.et al. (1993) The otolaryngologist and the patient with velocardiofacial syndrome. Arch. Otolaryngol. Head Neck Surg., 119, 563–9.Google Scholar
Furlow, L. T., Jr. (1978) Cleft palate repair: preliminary report on lengthening and muscle transportation by Z-plasty. Presented at the annual meeting of the Southeastern Society of Plastic and Reconstructive Surgeons, Boca Raton, Florida.
Ganzer, H. (1920) Wolfsrachenplastik mit Ausnutzung des gesamten Schleimhautmaterials zur Vermeidung des Verkuerzung des Gaumensegels. Berl. Klin. Wochenschr., 57, 619.Google Scholar
Goldberg, R., Motzkin, B., Marion, R.et al. (1993) Velo-cardio-facial syndrome: A review of 120 patients. Am. J. Med. Genet., 45, 313–19.Google Scholar
Golding-Kushner, K. J., Argamaso, R. V., Cotton, R. T.et al. (1990) Standardization for the reporting of nasopharyngoscopy and multiview videofluoroscopy: a report from an international working group. Cleft Palate J., 27, 337–47.Google Scholar
Gosain, A. K., Conley, S. F., Marks, S. & Larson, D. L. (1996) Submucous cleft palate: Diagnostic methods and outcomes of surgical treatment. Plast. Reconstr. Surg., 97, 1497–509.Google Scholar
Havkin, N., Tatum, S. A. III, & Shprintzen, R. J. (2000) Velopharyngeal insufficiency and articulation impairment in velocardiofacial syndrome: the influence of adenoids on phonemic development. Int. J. Ped. Otorhinolaryngol., 54, 103–10.Google Scholar
Hynes, W. (1967) Observations in pharyngoplasty. Br. J. Plast. Surg., 20, 244–56.Google Scholar
Jackson, I. T. & Silverton, J. S. (1977) The sphincter pharyngoplasty as a secondary procedure in cleft palates. Plast. Reconstr. Surg., 59, 518–24.Google Scholar
Kaplan, E. N. (1975). The occult submucous cleft palate. Cleft Palate J., 12, 356–68.Google Scholar
Kilner, T. P. (1937) Cleft lip and palate repair technique. St. Thomas Hosp. Rep., 2, 127.Google Scholar
Kirschner, R. E. & LaRossa, D. (2000) Cleft lip and palate. Otolaryngol. Clin. NA, 33, 1191–215.Google Scholar
Kirschner, R. E., Wang, P., Jawad, A. F.et al. (1999) Cleft palate repair by modified Furlow double opposing Z-plasty: the Children's Hospital of Philadelphia experience. Plast. Reconstr. Surg., 104, 1998–2010.Google Scholar
Kirschner, R. E., Randall, P., Wang, P.et al. (2000) Cleft palate repair at 3 to 7 months of age. Plast. Reconstr. Surg., 105, 2127–32.Google Scholar
Kirschner, R. E., Solot, C. B., McDonald-McGinn, D. M. et al. (2001) Speech outcome after cleft palate repair in patients with a chromosome 22q11 deletion. Presented at the 58th Annual Meeting of the American Cleft Palate-Craniofacial Association in Minneapolis, MN.
Kriens, O. (1969) An anatomical approach to veloplasty. Plast. Reconstr. Surg., 43, 29–41.Google Scholar
Lipson, A. H., Yiulle, M., Angel, P. G., et al. (1991) Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. J. Med. Genet., 28, 596–604.Google Scholar
Lykins, C. & Sie, K. (2001) Speech surgery and velocardiofacial syndrome. Presented at the 58th Annual Meeting of the American Cleft Palate-Craniofacial Association in Minneapolis, MN.
MacKenzie-Stepner, K., Witzel, M. A., Stringer, D. A.et al. (1987) Abnormal carotid arteries in the velocardiofacial syndrome: a report of three cases. Plast. Reconstr. Surg., 80, 347–51.Google Scholar
Marsh, J., Grames, L. & Holtman, B. (1989) Intravelar veloplasty: a prospective study. Cleft Palate J., 26, 46–50.Google Scholar
McDonald-McGinn, D. M., Kirschner, R., Goldmuntz, E.et al. (1999) The Philadelphia story: The 22q11 deletion: Report on 250 patients. Genetic Counseling, 10, 11–24.Google Scholar
McWilliams, B. J. & Philips, B. J. (1979) Velopharyngeal Incompetence: Audio Seminars in Speech Pathology. Philadelphia: WB Saunders.
McWilliams, B. J., Morris, H. L. & Shelton, R. L. (1990) Cleft palate speech. Philadelphia: B. C. Decker, pp. 168–206.
Millard, D. R. Jr. (1980) Cleft Craft: The Evolution of Its Surgery. Vol. III. Boston: Little, Brown, and Company.
Mingarelli, R., Digilio, M. C., Mari, A.et al. (1996) The search for hemizygosity at 22q11 in patients with isolated cleft palate. J. Craniofac. Genet. Dev. Biol., 16, 118–21.Google Scholar
Mitnick, R. J., Bello, J. A., Golding-Kushner, K. J.et al. (1996) The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome. Plast. Reconstr. Surg., 97, 908–19.Google Scholar
Orticochea, M. (1970) Results of the dynamic muscle sphincter operation in cleft palates. Br. J. Plast. Surg., 23, 108–14.Google Scholar
Perkins, J. A., Sie, K. & Gray, S. (2000) Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency. Arch. Otolaryngol. Head Neck Surg., 126, 645–8.Google Scholar
Riski, J. E., Burstein, F. D., Cohen, S. R. et al. (2000) Cephalometric comparison of velopharyngeal dimensions in velo-cardio-facial syndrome, cleft palate, and noncleft children. Presented at the 57th annual meeting of the American Cleft Palate-Craniofacial Association in Atlanta, GA.
Ross, D. A., Witzel, M. A., Armstrong, D. C. & Thomson, H. G. (1996) Is pharyngoplasty a risk in velocardiofacial syndrome? An assessment of medially displaced carotid arteries. Plast. Reconstr. Surg., 98, 1182–90.Google Scholar
Ruotolo, R. A., Veitia, N., Corbin, A. et al. (2003) Velopharyngeal anatomy in 22q11 deletion syndrome: A three-dimensional cephalometric analysis. Presented at the 60th annual meeting of the American Cleft Palate-Craniofacial Association in Asheville, NC.
Ryan, A. K., Goodship, J. A., Wilson, D. I.et al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet., 34, 798–804.Google Scholar
Shprintzen, R. J. (1982) Palatal and pharyngeal anomalies in craniofacial syndromes. Birth Defects, 28, 53–78.Google Scholar
Shprintzen, R. J., Goldberg, R. B., Young, D. & Wolford, L. (1981) The velocardiofacial syndrome: a clinical and genetic analysis. Pediatrics, 67, 167–72.Google Scholar
Shprintzen, R. J., Schwartz, R. H., Daniller, A. & Hoch, L. (1985) Morphologic significance of bifid uvula. Pediatrics, 75, 553–61.Google Scholar
Valnicek, S. M., Zuker, R. M., Halpern, L. M. & Roy, W. L. (1994) Perioperative complications of superior pharyngeal flap surgery in children. Plast. Reconstr. Surg., 93, 954–8.Google Scholar
Vantrappen, G., Devriendt, K., Swillen, A.et al. (1999) Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet. Counsel., 10, 3–9.Google Scholar
Veau, V. & Ruppe, C. (1922) Anatomie chirurgicale de la division palatine. Considérations opératoires. Rev. Chir., 20, 1–30.Google Scholar
Langenbeck, B. (1861) Die uranoplastik mittelst ablösung des mucös-periostalen gaumenüberzuges. Arch. Klin. Chir., 2, 205–87.Google Scholar
Wardill, W. E. M. (1937) The technique of operation for cleft palate. Br. J. Surg., 25, 117–30.Google Scholar
Williams, M. A., Shprintzen, R. J. & Rakoff, S. J. (1987) Adenoid hypoplasia in the velo-cardio-facial syndrome. J. Craniofac. Genet. Dev. Biol., 7, 23–6.Google Scholar
Witt, P., Cohen, D., Grames, L. M. & Marsh, J. (1999) Sphincter pharyngoplasty for the surgical management of speech dysfunction associated with velocardiofacial syndrome. Br. J. Plast. Surg., 52, 613–18.Google Scholar
Zori, R. T., Boyar, F. Z., Williams, W. N.et al. (1998) Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am. J. Med. Genet., 77, 8–11.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×