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中华口腔医学研究杂志(电子版) ›› 2018, Vol. 12 ›› Issue (06) : 389 -392. doi: 10.3877/cma.j.issn.1674-1366.2018.06.012

所属专题: 经典病例 文献

病例报告

歌舞伎综合征伴先天性膈疝一例及相关文献回顾
孟芝竹1, 刘强1, 白晓峰1, 张泽良1, 卢利1,()   
  1. 1. 110002 沈阳,辽宁省口腔医学研究所口腔颌面外科研究室,辽宁省口腔疾病转化医学研究中心,辽宁省口腔疾病重点实验室,中国医科大学附属口腔医院口腔颌面外科
  • 收稿日期:2018-06-13 出版日期:2018-12-01
  • 通信作者: 卢利
  • 基金资助:
    辽宁省中央引导地方科技发展专项资金(2017108001)

Diaphragmatic hernia in a patient with Kabuki syndrome: case report and literature review

Zhizhu Meng1, Qiang Liu1, Xiaofeng Bai1, Zeliang Zhang1, Li Lu1,()   

  1. 1. Department of Oral and Maxillofacial Surgery, Institute of Stomatology, Liaoning Province; Liaoning Province Dental Disease Transformation Medical Research Center; Key Laboratory of Oral Diseases in Liaoning Province; Department of Oral and Maxillofacial Surgery, School Stomatology, China Medical University, Shenyang 110002, China
  • Received:2018-06-13 Published:2018-12-01
  • Corresponding author: Li Lu
  • About author:
    Corresponding author: Lu Li, Email:
引用本文:

孟芝竹, 刘强, 白晓峰, 张泽良, 卢利. 歌舞伎综合征伴先天性膈疝一例及相关文献回顾[J]. 中华口腔医学研究杂志(电子版), 2018, 12(06): 389-392.

Zhizhu Meng, Qiang Liu, Xiaofeng Bai, Zeliang Zhang, Li Lu. Diaphragmatic hernia in a patient with Kabuki syndrome: case report and literature review[J]. Chinese Journal of Stomatological Research(Electronic Edition), 2018, 12(06): 389-392.

歌舞伎综合征(KMS)首次由日本报道,发病率约1/32 000。该疾病常伴发多种先天畸形,但目前没有明确的诊断标准。KMS主要通过5个临床表现来诊断:(1)特殊面容;(2)骨骼异常;(3)皮纹异常;(4)轻中度智力发育落后;(5)身材短小。除此之外,其他的特殊表现也有助于诊断该疾病,但是该综合征伴发先天性膈疝(CDH)较罕见。本文报道了1例12月龄KMS患儿伴发CDH和腭裂。该病例提示对于KMS患者有必要进行全面的体格检查,同时全面的麻醉管理也非常重要。

Kabuki syndrome (KMS) is characterized by multiple congenital anomalies with an incidence of 1/32 000 in Japan. There is no any standard of dignosis for KMS. Five diagnostic criteria for KMS are as follows, including a characteristic facial dysmorphism, skeletal anomalies, dermatoglyphic anomalies, postnatal short stature and mild to moderate mental retardation. In addition, other rare clinical features also have implications for the diagnosis of KMS. Congenital diaphragmatic hernia (CDH) is an unfrequent concomitnta symptom in KMS. In this case report, we describe a 12-month-old boy with KMS who is diagnosed with CDH and cleft palate. It is recommended that careful dysmorphological examination should be performed in all patients with KMS. Meanwhile, a prudent anesthetic management is of great importance for such patients.

图1 歌舞伎综合征患儿术前面相
图2 歌舞伎综合征患儿术前胸部正侧位片
图3 歌舞伎综合征患儿腭裂修补手术前后的口内照片
表1 1989—2015年文献报道伴发先天性膈疝的歌舞伎综合征汇总
序号 文献 年龄 性别 国籍 报道时间 膈疝位置 特征表型 伴发疾病
A B C D E
1 Halal等[8] 14岁 加拿大 1989 牙齿畸形,隐睾,小阴茎
2 Philip等[9] 5岁 德国 1992 高血糖症、真性红细胞增多症、癫痫、缺牙、小颌畸形,小头畸形
3 Philip等[9] 2个月 波兰 1992 癫痫,腭裂,小颌畸形
4 Silengo等[10] 胎儿 意大利 1996 不详 不详 不详 不详 不详 不详 牙齿发育不良
5 Tsukahara等[11] 2岁 日本 1997 主动脉二尖瓣狭窄,ASD,腭裂,性早熟,无脑
6 Courtens等[12] 18个月 比利时 2000 肌张力减退,癫痫
7 van Haelst等[13] 3岁 荷兰 2000 肌张力减退,癫痫
8 Donadio等[14] 15岁 意大利 2000 不详 不详
9 Scherer等[15] 不详 法国 2004 不详 左肾重复
10 Geneviève等[16] 不详 未提供 2004 罗宾综合征,ASD,白癜风,CHARGE联合畸形
11 Geneviève等[16] 不详 未提供 2004 腭裂,舌裂,ASD,右肾重复畸形
12 David等[17] 2岁 澳大利亚 2004 不详 三角头畸形
13 Shalev等[18] 不详 澳大利亚 2004 主动脉狭窄,肾发育不良,肌张力减退,听力丧失,牙齿异常
14 Sert等[19] 4个月 土耳其 2006 不详 不详 中位心
15 Sethi等[20] 13个月 印度 2006 ASD
16 Abdel等[21] 3个月 埃及 2008 不详 性早熟,肌张力减退,癫痫,ASD,VSD眼部异常,马蹄形肾,肌张力减退
17 Chaudhry等[22] 5岁 沙特阿拉伯 2008
18 Furuta等[23] 7个月 中国 2015 不详 不详 腭裂,肛门直肠畸形,低血糖
19 McVeigh等[24] 不详 爱尔兰 2015 不详 双侧极度小眼球,腭裂,双肾
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