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
收藏
页码：170 / 173
页数：4
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