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

Jamie L PerryJessica L WilliamsTaylor D SnodgrassThomas J Sitzman
Published in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2022)
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.
Keyphrases
  • case report
  • contrast enhanced
  • magnetic resonance imaging
  • diffusion weighted imaging
  • genome wide
  • gene expression
  • magnetic resonance
  • low birth weight
  • copy number
  • dna methylation
  • breast reconstruction