A case of Kabuki syndrome with a large palatal fistula and malocclusion

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by distinctive facial appearances, skeletal anomalies, abnormal dermatoglyphic patterns, mental retardation, and delayed growth. Patients with KS may show cleft palate and malocclusion that require treatment. However, active treatment procedures such as orthognathic surgery often cannot be performed because of mental retardation. Herein, we present a case involving a female KS patient who was 16 years old at the time of her first visit, had a cleft palate at birth, and underwent a palatoplasty at the age of 1 year and 6 months and pharyngeal flap surgery at the age of 10 years at another hospital. At her first consultation, she had a large palatal fistula, marked maxillary retrusion, mandibular protrusion and anterior open bite. When she was 16 years old, a tongue flap was used to close the large palatal fistula in 2007. In 2011, at the age of 20, she underwent a maxillomandibular orthognathic surgery involving a Le Fort I osteotomy and bilateral sagittal split ramus osteotomy. Both surgical procedures were followed by a favorable postoperative course, with no problems during her inpatient care. As this patient had mental retardation, perioperative management was expected to be difficult. However, our efforts to communicate frequently with the patient during hospitalization led to improvements in her motivation and activity level. The findings obtained in this case suggest that active surgical procedures can be performed on KS patients with mental retardation as long as a careful treatment evaluation demonstrates communication improvements.