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

Richard E. Kirschner

doi:10.1017/CBO9780511544101.005

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

Published online by Cambridge University Press: 11 August 2009

Richard E. Kirschner

Edited by

Kieran C. Murphy and

Peter J. Scambler

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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

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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 deletion Furlow's method mirror-image Z-plasty incision palatal anomalies velopharyngeal dysfunction velopharyngeal valving system palatal phenotype velo-cardio-facial syndrome

Type: Chapter
Information: Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
, pp. 83 - 104

DOI: https://doi.org/10.1017/CBO9780511544101.005 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2005

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

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