Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients

Jong-Ho Kim,Taeseon Ahn,Jiwon Kang,Rong-Min Baek,Joon Seok Oh,Baek-Kyu Kim

doi:10.1186/s12887-021-02852-4

Jong-Ho Kim, Taeseon Ahn + Show 4 more

Open Access

https://doi.org/10.1186/s12887-021-02852-4

Copy DOI

Journal: BMC Pediatrics	Publication Date: Sep 3, 2021
Citations: 1	License type: open-access

Affiliation: Seoul National University Bundang Hospital

Abstract

ObjectiveA significant number of patients with KS have cleft palate (CP) or submucous cleft palate (SMCP) and show delayed speech development. However, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study was to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importance of the diagnosis of CP or SMCP.MethodsWe conducted a retrospective study on patients with clinically diagnosed KS who underwent palatoplasty. Clinical and surgical data were collected from patients’ medical records, and velopharyngeal function was evaluated using nasopharyngoscopy and speech analysis.ResultsIn 11 cases, 5 patients had CP (45.5%) and 6 had SMCP (54.5%). Four patients who were genetically tested had a pathogenic variant of KMT2D. Seven of nine patients (77.8%) who underwent conventional palatoplasty showed velopharyngeal insufficiency and hypernasality. All patients who underwent pharyngeal flap surgery achieved velopharyngeal competency. Statistical analysis revealed a statistically significant difference in postoperative results between non-syndromic and KS patients.ConclusionPatients with SMCP may be more common than previously reported. The results showed that it is difficult to produce optimal results with conventional palatoplasty; therefore, pharyngeal flap surgery should be considered as a treatment to obtain favorable results. Pharyngeal flap surgery in patients with KS should be carefully designed based on speech evaluation and nasopharyngoscopic findings.

Highlights

Kabuki syndrome (KS [MIM: 147920 and 300,867]), first reported by Niikawa et al, is a syndrome of multiple congenital anomalies [1]
Heterozygous mutations in KMT2D have been identified in approximately 60–70% of Patients with KS and mutations in KDM6A account for 5–8% of patients with KS [7]
Palatoplasty methods Double opposing Z plasty (DOZ) and limited incision with thorough elevation (LITE) palatoplasty were used for correction of cleft palate (CP)

Summary

Introduction

Kabuki syndrome (KS [MIM: 147920 and 300,867]), first reported by Niikawa et al, is a syndrome of multiple congenital anomalies [1]. Heterozygous mutations in KMT2D have been identified in approximately 60–70% of Patients with KS and mutations in KDM6A account for 5–8% of patients with KS [7]. Both genes encode for proteins that affect the epigenetic regulation of transcriptionally active chromatin by interacting with each other in the protein complex [8]. Lida et al [11] reported six patients with KS with CP, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study is to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importance of proper diagnosis of CP or SMCP and the determination of the surgical method

Methods

Results

Discussion

Conclusion