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

Document Type

Article

Publication Date

9-1-2019

Publication Title

International Journal of Pediatric Otorhinolaryngology

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.

Volume

124

First Page

54

Last Page

58

DOI

10.1016/j.ijporl.2019.05.029

ISSN

01655876

PubMed ID

31158572

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