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

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.