Unexpected life-threatening complications in Kabuki syndrome

被引：0

作者：

van Haelst, MM

Brooks, AS

Hoogeboom, J

Wessels, MW

Tibboel, D

de Jongste, JC

den Hollander, JC

Bongers-Schokking, JJ

Niermeijer, MF

Willems, PJ

机构：

[1] Erasmus Univ, Dept Clin Genet, NL-3016 AH Rotterdam, Netherlands

[2] Univ Hosp Dijkzigt, Sophia Childrens Hosp, Dept Pediat Surg, NL-3015 GD Rotterdam, Netherlands

[3] Sophia Childrens Hosp, Dept Pediat Resp Med, Rotterdam, Netherlands

[4] Univ Hosp Dijkzigt, Dept Pathol, NL-3015 GD Rotterdam, Netherlands

[5] Med Day Care Ctr Myosotis, Rotterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2000年 / 94卷 / 02期

关键词：

bronchus anomaly; congenital diaphragmatic hernia; extrahepatic biliary atresia; Kabuki syndrome;

D O I：

10.1002/1096-8628(20000911)94:2<170::AID-AJMG10>3.0.CO;2-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia. (C) 2000 Wiley-Liss, Inc.

引用

页码：170 / 173

页数：4

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