Literature DB >> 24607194

Surgical considerations in 22Q11.2 deletion syndrome.

Richard E Kirschner1, Adriane L Baylis2.   

Abstract

The 22q11.2 deletion syndrome (22q11DS) may be associated with several palatal abnormalities, including overt cleft palate, submucosal cleft palate, palatopharyngeal disproportion, and velar hypotonia. The syndrome is the genetic disorder most commonly associated with velopharyngeal dysfunction (VPD). The complex causes of VPD in affected patients combine with the complexity of associated medical disorders to render surgical management of the velopharynx particularly challenging. Optimization of surgical outcomes requires precision in diagnosis, surgical management, and multidisciplinary care. This article provides an overview of 22q11DS and provides a review of the assessment and surgical management of VPD in affected individuals.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  22q11.2 deletion syndrome; DiGeorge syndrome; Velocardiofacial syndrome; Velopharyngeal dysfunction

Mesh:

Year:  2014        PMID: 24607194     DOI: 10.1016/j.cps.2013.12.002

Source DB:  PubMed          Journal:  Clin Plast Surg        ISSN: 0094-1298            Impact factor:   2.017


  4 in total

Review 1.  Hard to swallow: Developmental biological insights into pediatric dysphagia.

Authors:  Anthony-Samuel LaMantia; Sally A Moody; Thomas M Maynard; Beverly A Karpinski; Irene E Zohn; David Mendelowitz; Norman H Lee; Anastas Popratiloff
Journal:  Dev Biol       Date:  2015-11-07       Impact factor: 3.582

Review 2.  22q11 deletion syndrome: current perspective.

Authors:  Bülent Hacıhamdioğlu; Duygu Hacıhamdioğlu; Kenan Delil
Journal:  Appl Clin Genet       Date:  2015-05-18

3.  Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome.

Authors:  Adriane L Baylis; Lawrence D Shriberg
Journal:  Am J Speech Lang Pathol       Date:  2019-02-21       Impact factor: 2.408

Review 4.  Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

Authors:  Cynthia B Solot; Debbie Sell; Anne Mayne; Adriane L Baylis; Christina Persson; Oksana Jackson; Donna M McDonald-McGinn
Journal:  Am J Speech Lang Pathol       Date:  2019-07-22       Impact factor: 4.018

  4 in total

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