J Korean Soc Plast Reconstr Surg.  2011 Mar;38(2):203-206.

Treatment of Velopharyngeal Insufficiency in Kabuki Syndrome: Case Report

• Lee SH
• Wang JK
• Park MK
• Baek RM

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.

Keyword

Kabuki syndrome; Velopharyngeal insufficiency; Speech evaluation; Pharyngeal flap

MeSH Terms

Abnormalities, Multiple
Dermatoglyphics
Face
Hematologic Diseases
Humans
Intellectual Disability
Japan
Reference Values
Speech Therapy
Velopharyngeal Insufficiency
Vestibular Diseases
Abnormalities, Multiple
Face
Hematologic Diseases
Vestibular Diseases