Occult subtotal cleft of the secondary palate with VPI associated to 8q22.2 deletion
International Journal of Pediatric Otorhinolaryngology
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.
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.