VPI Management in SATB2 Syndrome: Use of MRI to Evaluate Anatomy and Physiology in Non-Cleft VPI

Cleft Palate Craniofac J. 2023 Nov;60(11):1499-1504. doi: 10.1177/10556656221106888. Epub 2022 Jun 12.

Abstract

This clinical case study describes the velopharyngeal anatomy and physiology in a patient who presented with SATB2-associated syndrome (SAS) and velopharyngeal insufficiency (VPI) in the absence of an overt cleft palate. The clinical presentation, treatment, outcome, and the contribution of anatomical findings from MRI to surgical treatment planning for this rare genetic disorder, SAS, are described. This case study contributes to our current understanding of the anatomy and physiology of the velopharyngeal mechanism in an individual born with SAS and non-cleft VPI. It also details the changes following bilateral buccal myomucosal flaps in this patient.

Keywords: MRI; SATB2-associated-syndrome; VPI.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cleft Palate* / complications
  • Cleft Palate* / diagnostic imaging
  • Cleft Palate* / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Matrix Attachment Region Binding Proteins*
  • Plastic Surgery Procedures*
  • Surgical Flaps
  • Transcription Factors
  • Treatment Outcome
  • Velopharyngeal Insufficiency* / complications
  • Velopharyngeal Insufficiency* / diagnostic imaging
  • Velopharyngeal Insufficiency* / surgery

Substances

  • SATB2 protein, human
  • Transcription Factors
  • Matrix Attachment Region Binding Proteins