Treatment of Velopharyngeal Insufficiency in Kabuki Syndrome: Case Report.

Lee, San Ha; Wang, Jae Kwon; Park, Mi Kyong; Baek, Rong Min

Case Report

Journal of the Korean Society of Plastic and Reconstructive Surgeons 2011;38(2):203-206.
Published online March 1, 2011.

Treatment of Velopharyngeal Insufficiency in Kabuki Syndrome: Case Report.

San Ha Lee, Jae Kwon Wang, Mi Kyong Park, Rong Min Baek

Department of Plastic and Reconstructive Surgery, Seoul National University College of Medicine, Seoul, Korea. ronbaek@snu.ac.kr

Abstract

PURPOSE
Kabuki syndrome is a multiple malformation syndrome that was first reported in Japan. It is characterized by distinctive Kabuki-like facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. We report two cases of Kabuki syndrome with the surgical intervention and speech evaluation. METHODS: Both patients had velopharyngeal insufficiency and had a superior based pharyngeal flap operation. The preoperative and postoperative speech evaluations were performed by a speech language pathologist.
RESULTS
In case 1, hypernasality was reduced in spontaneous speech, and the nasalance scores in syllable repetitions were reduced to be within normal ranges. In case 2, hypernasality in spontaneous speech was reduced from severe level to moderate level and the nasalance scores in syllable repetitions were also reduced to be within normal ranges.
CONCLUSION
The goal of this article is to raise awareness among plastic surgeons who may encounter such patients with unique facial features. This study shows that pharyngeal flap operation can successfully correct the velopharyngeal insufficiency in Kabuki syndrome and post operative speech therapy plays a role in reinforcing surgical result.

Keywords: Kabuki syndrome; Velopharyngeal insufficiency; Speech evaluation; Pharyngeal flap