A case of Kabuki syndrome with oral manifestation

Introduction Kabuki syndrome is a rare multiple congenital anomaly/mental retardation syndrome. The clinical diagnosis based on the presence of five primary characteristics: facial dysmorphic features, dermatoglyphic anomalies, skeletal abnormalities, mild-to-moderate mental disability, and postnatal growth failure with short stature. Oral manifestations are commonly observed and may comprise cleft lip/palate, external root resorption, impacted teeth. Other findings that may aid the diagnosis include joint laxity, and hypothyroidism.Case report A 22 year-old female was referred to dentistry faculty of Alborz University of medical science with the main complaint of orthodontic treatment. She had distinctive facial appearance with high-arched eyebrows, strabismus, flat nasal tip. She revealed mild neuropsychomotor developmental deficits, which caused walking and speaking delay and mild mental disability. The physical examination revealed a short stature and joint laxity. She had the medical history of hypothyroidism. The intraoral examination showed that the patient had the history of hard palate cleft. There was sever external root resorption in right upper central and an impacted tooth in the midline area of maxilla. Discussion Kabuki syndrome is a congenital disease with varied demonstrations that can’t be diagnosed only by available biological tests, so that radiological and clinical factors are also required. The most common manifestation in oral cavity is cleft palate, which is seen in 41% of patients. In our patient, the cleft palate was closed at age 8. According to the studies, mental disability has been found and causes problems including speaking and thinking disorders, microcephaly, also some of these symptoms are observed in our patient. Our greater understanding of the clinical, biological, and radiographic features of this syndrome in younger patients can certainly lead to an earlier diagnosis, whereby these people appear better in their personal and social lives.

Keywords:

Kabuki syndrome , Cleft palate , Impacted tooth