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

• Published in: BMC pediatrics Vol. 21; no. 1; pp. 379 - 8
• Main Authors: Kim, Jong-Ho, Kang, Jiwon, Oh, Joon Seok, Ahn, Taeseon, Kim, Baek-Kyu, Baek, Rong-Min
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03.09.2021; BioMed Central; BMC
• Subjects: Abnormalities, Multiple - surgery; Birth defects; Care and treatment; Case studies; Cleft palate; Cleft Palate - diagnosis; Cleft Palate - surgery; Complications and side effects; Congenital diseases; Face - abnormalities; Hematologic Diseases; Humans; Kabuki syndrome; Mouth; Mutation; Otolaryngology; Patient outcomes; Patients; Pediatric research; Pediatrics; Pharyngeal flap surgery; Retrospective Studies; Speech; Surgery; Surgical outcomes; Treatment Outcome; Vestibular Diseases; South Korea; Pharyngeal flap surgery; Kabuki syndrome; Cleft palate
• ISSN: 1471-2431; 1471-2431
• DOI: 10.1186/s12887-021-02852-4

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. 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. 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. 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.