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Article
Occult subtotal cleft of the secondary palate with VPI associated to 8q22.2 deletion
International Journal of Pediatric Otorhinolaryngology (2019)
  • Pablo Antonio Ysunza, Beaumont Health
  • Matthew Rontal, Beaumont Health
  • Mark Micale, Beaumont Health
Abstract
Background: Submucous cleft palate is a cleft of the secondary palate with low phenotypic gene expression. It can occur as an isolated malformation or associated with a syndrome that includes certain facial features and other vocal tract malformations. Velopharyngeal insufficiency (VPI) is rare in cases of non - syndromic occult clefts of the secondary palate (OSCSP). In contrast, syndromic OCSP has a high prevalence of VPI. VPI requires surgical treatment in the vast majority of cases.
Objective: To present a case of OSCSP with VPI after partial tonsillectomy and adenoidectomy (T & A) associated with facial features and other vocal tract malformations. A chromosomal abnormality (8q22.2 deletion) was demonstrated by cytogenetic testing.
Case presentation: Eight year old female with VPI following partial T & A. OSCSP was diagnosed. Complete T & A was performed in preparation for a pharyngeal flap. Pharyngeal flap surgery was customized according to findings of videonasopharyngoscopy (VNP) and multiplanar videofluoroscopy (MPVF). VPI was corrected without intraoperative or postoperative complications.
Conclusion: The presence of multiple vocal tract malformations should be a red flag for suspecting a syndromic OSCSP. Surgical treatment of VPI in cases of OSCSP should be performed after complete T & A, Imaging procedures for assessing neck blood vessels and it should be customized according to imaging (VNP and MPVF) findings.
Keywords
  • Chromosomes,
  • Cleft palate,
  • Congenital anomalies,
  • Speech,
  • Surgery
Publication Date
September, 2019
DOI
10.1016/J.IJPORL.2019.05.029
Citation Information
Ysunza PA, Rontal M, Micale M. Occult subtotal cleft of the secondary palate with VPI associated to 8q22.2 deletion. Int J Pediatr Otorhinolaryngol. 2019 Sep;124:54-58. doi: 10.1016/j.ijporl.2019.05.029. Epub 2019 May 27. PMID: 31158572.