Surgical considerations in 22Q11.2 deletion syndrome

Richard E Kirschner; Adriane L Baylis

doi:10.1016/j.cps.2013.12.002

Surgical considerations in 22Q11.2 deletion syndrome

Clin Plast Surg. 2014 Apr;41(2):271-82. doi: 10.1016/j.cps.2013.12.002.

Authors

Richard E Kirschner¹, Adriane L Baylis²

Affiliations

¹ Section of Plastic and Reconstructive Surgery, Department of Plastic Surgery, Nationwide Children's Hospital, The Ohio State University College of Medicine, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address: richard.kirschner@nationwidechildrens.org.
² Section of Plastic and Reconstructive Surgery, Department of Plastic Surgery, Nationwide Children's Hospital, The Ohio State University College of Medicine, 700 Children's Drive, Columbus, OH 43205, USA.

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

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.

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

Publication types

Review

MeSH terms

Child
DiGeorge Syndrome / surgery*
Humans
Oral Surgical Procedures / methods*
Palate / abnormalities*
Palate / surgery
Surgical Flaps
Velopharyngeal Insufficiency / surgery*