Dental Management and Consideration of a Child with Kabuki Syndrome

歌舞伎症候群病人的牙科處置與臨床考量－病例報告

林芳雯(Fang-Wen Lin) ； 林怡君(Yi-Chun Lin) ； 許修銘(Hsiu-Ming Hsu)

《臺灣兒童牙醫學雜誌》 20卷2期 (2020/06) Pp. 73-79

https://doi.org/10.6319/TJPD.202006_20(2).0004

摘要

Kabuki syndrome (KS), first identified in 1981, is a rare congenital disorder of genetic origin. The characteristic feature is facial appearance resembled the makeup of traditional Japanese Kabuki actor. Other findings may include motor or cognitive developmental delay, skeletal abnormalities, cardiovascular defects, renal problems, cleft lip and/or palate, hypodontia and malocclusion. Although the etiology is not clear, mutations in the MLL2/KMT2D gene or the KDM6A gene were identified to cause KS. This case report presents that a 2-year-1-month-old female of KS, detected by mutation in the MLL2 gene, received dental treatment with protective stabilization. The patient has typical facial features of long palpebral fissure, everted lower eyelids and arched eyebrows. In addition, patent ductus arteriosus, right side ectopic kidney, absence of uvula, congenital glaucoma and sclerocornea, mild hip dysplasia, mild developmental delay and severe early childhood caries also affected her. A dentist should take status of the patient's illness into account to implement applicable dental care for a KS patient.

關鍵字

Kabuki syndrome ； MLL2 gene ； Dental treatment ； Severe early childhood caries

並列摘要

「歌舞伎症候群」在1981年被確立，為遺傳性罕見先天性疾病，患者有明顯的臉部特徵，與傳統日本歌舞伎演員面具相似而名；其他臨床表徵包含：動作或認知發展遲緩、骨骼異常、心血管缺損、腎臟問題、唇顎裂、缺齒及咬合不正等；雖然病因不清楚，但已有證據顯示，MLL2/KMT2D或KDM6A基因的突變會導致此病。本篇病例報告為一位患有歌舞伎症候群（已被檢測出MLL2基因突變）之兩歲女孩，使用保護性約束裝置下接受牙科治療。該病患具有長眼裂、下眼瞼外翻、拱形眉毛等典型顏面特徵，併有開放性動脈導管、右側腎臟異位、先天性懸壅垂缺失、先天性青光眼及硬化性角膜、輕度髖關節發育不良、輕度發展遲緩及嚴重早發性幼兒齲齒。此類病患的牙科照護方式，應將疾病引起的全身性疾病納入考量。

並列關鍵字

歌舞伎症候群 ； MLL2基因 ； 牙科治療 ； 嚴重早發性幼兒齲齒