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

doi:10.3877/cma.j.issn.1674-1366.2018.06.012

Abstract

Abstract:

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.

Key words: Kabuki syndrome, Congenital diaphragmatic hernia, Cleft palate

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.

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URL: https://zhkqyxyjzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.1674-1366.2018.06.012

https://zhkqyxyjzz.cma-cmc.com.cn/EN/Y2018/V12/I06/389

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References 27

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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
序号	文献	年龄	性别	国籍	报道时间	膈疝位置	A	B	C	D	E	伴发疾病
1	Halal等^[8]	14岁	男	加拿大	1989	右	√	√	√	√	√	牙齿畸形，隐睾，小阴茎
2	Philip等^[9]	5岁	女	德国	1992	右	√	√	√	√	√	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	女	波兰	1992	双	√	√	√	√	√	癫痫，腭裂，小颌畸形
4	Silengo等^[10]	胎儿	女	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	女	日本	1997	右	√	√	√	√	√	主动脉二尖瓣狭窄，ASD，腭裂，性早熟，无脑
6	Courtens等^[12]	18个月	女	比利时	2000	右	√	√	√	√	√	肌张力减退，癫痫
7	van Haelst等^[13]	3岁	男	荷兰	2000	右	√	√	√	√	√	肌张力减退，癫痫
8	Donadio等^[14]	15岁	女	意大利	2000	不详	√	√	√	√	√	不详
9	Scherer等^[15]	不详	女	法国	2004	不详	√	√	√	√	√	左肾重复
10	Geneviève等^[16]	不详	男	未提供	2004	右	√	√	√	√	√	罗宾综合征，ASD，白癜风，CHARGE联合畸形
11	Geneviève等^[16]	不详	女	未提供	2004	右	√	√	√	√	√	腭裂，舌裂，ASD，右肾重复畸形
12	David等^[17]	2岁	男	澳大利亚	2004	不详	√	√	√	√	√	三角头畸形
13	Shalev等^[18]	不详	男	澳大利亚	2004	右	√	√	√	√	√	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	男	土耳其	2006	不详	√	√	不详	√	√	中位心
15	Sethi等^[20]	13个月	男	印度	2006	右	√	√	√	√	√	ASD
16	Abdel等^[21]	3个月	女	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	女	沙特阿拉伯	2008	双	√	√	√	√	√	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
18	Furuta等^[23]	7个月	男	中国	2015	右	√	不详	不详	√	√	腭裂，肛门直肠畸形，低血糖
19	McVeigh等^[24]	不详	男	爱尔兰	2015	不详	√	√	√	√	√	双侧极度小眼球，腭裂，双肾

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
序号	文献	年龄	性别	国籍	报道时间	膈疝位置	A	B	C	D	E	伴发疾病
1	Halal等^[8]	14岁	男	加拿大	1989	右	√	√	√	√	√	牙齿畸形，隐睾，小阴茎
2	Philip等^[9]	5岁	女	德国	1992	右	√	√	√	√	√	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	女	波兰	1992	双	√	√	√	√	√	癫痫，腭裂，小颌畸形
4	Silengo等^[10]	胎儿	女	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	女	日本	1997	右	√	√	√	√	√	主动脉二尖瓣狭窄，ASD，腭裂，性早熟，无脑
6	Courtens等^[12]	18个月	女	比利时	2000	右	√	√	√	√	√	肌张力减退，癫痫
7	van Haelst等^[13]	3岁	男	荷兰	2000	右	√	√	√	√	√	肌张力减退，癫痫
8	Donadio等^[14]	15岁	女	意大利	2000	不详	√	√	√	√	√	不详
9	Scherer等^[15]	不详	女	法国	2004	不详	√	√	√	√	√	左肾重复
10	Geneviève等^[16]	不详	男	未提供	2004	右	√	√	√	√	√	罗宾综合征，ASD，白癜风，CHARGE联合畸形
11	Geneviève等^[16]	不详	女	未提供	2004	右	√	√	√	√	√	腭裂，舌裂，ASD，右肾重复畸形
12	David等^[17]	2岁	男	澳大利亚	2004	不详	√	√	√	√	√	三角头畸形
13	Shalev等^[18]	不详	男	澳大利亚	2004	右	√	√	√	√	√	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	男	土耳其	2006	不详	√	√	不详	√	√	中位心
15	Sethi等^[20]	13个月	男	印度	2006	右	√	√	√	√	√	ASD
16	Abdel等^[21]	3个月	女	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	女	沙特阿拉伯	2008	双	√	√	√	√	√	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
18	Furuta等^[23]	7个月	男	中国	2015	右	√	不详	不详	√	√	腭裂，肛门直肠畸形，低血糖
19	McVeigh等^[24]	不详	男	爱尔兰	2015	不详	√	√	√	√	√	双侧极度小眼球，腭裂，双肾

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