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

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

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: A 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. Methods: We 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. Results: In 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. Conclusion: Patients 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.

Original languageEnglish
Article number379
JournalBMC Pediatrics
Volume21
Issue number1
DOIs
StatePublished - Dec 2021

Keywords

  • Cleft palate
  • Kabuki syndrome
  • Pharyngeal flap surgery

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