Book contents
- Frontmatter
- Contents
- List of Abbreviations
- List of Contributors
- Foreword
- 1 Historical overview
- 2 Molecular genetics of velo-cardio-facial syndrome
- 3 Congenital cardiovascular disease and velo-cardio-facial syndrome
- 4 Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome
- 5 Nephro-urologic, gastrointestinal, and ophthalmic findings
- 6 Immunodeficiency in velo-cardio-facial syndrome
- 7 Behavioral and psychiatric disorder in velo-cardio-facial syndrome
- 8 The cognitive spectrum in velo-cardio-facial syndrome
- 9 Neuroimaging in velo-cardio-facial syndrome
- 10 Speech and language disorders in velo-cardio-facial syndrome
- 11 Genetic counseling
- 12 Family issues
- Index
- References
4 - Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome
Published online by Cambridge University Press: 11 August 2009
- Frontmatter
- Contents
- List of Abbreviations
- List of Contributors
- Foreword
- 1 Historical overview
- 2 Molecular genetics of velo-cardio-facial syndrome
- 3 Congenital cardiovascular disease and velo-cardio-facial syndrome
- 4 Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome
- 5 Nephro-urologic, gastrointestinal, and ophthalmic findings
- 6 Immunodeficiency in velo-cardio-facial syndrome
- 7 Behavioral and psychiatric disorder in velo-cardio-facial syndrome
- 8 The cognitive spectrum in velo-cardio-facial syndrome
- 9 Neuroimaging in velo-cardio-facial syndrome
- 10 Speech and language disorders in velo-cardio-facial syndrome
- 11 Genetic counseling
- 12 Family issues
- Index
- References
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
- Type
- Chapter
- Information
- Velo-Cardio-Facial SyndromeA Model for Understanding Microdeletion Disorders, pp. 83 - 104Publisher: Cambridge University PressPrint publication year: 2005
References
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