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

共 50 条

[1] Cushing syndrome with life-threatening infectious complications
Kloehn, S
Arendt, T
Reinecke-Luthge, A
Klomp, HJ
Monig, H
DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1997, 122 (50) : 1547 - 1552
[2] Life-threatening or nearly life-threatening complications in living liver donors
Onur, Asim
Akbulut, Sami
Dirican, Abuzer
Isik, Burak
Yilmaz, Sezai
CLINICAL TRANSPLANTATION, 2018, 32 (06)
[3] LIFE-THREATENING COMPLICATIONS OF VARICELLA
FLEISHER, G
HENRY, W
MCSORLEY, M
ARBETER, A
PLOTKIN, S
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1981, 135 (10): : 896 - 899
[4] Life-threatening complications of posterior reversible encephalopathy syndrome in children
Cordelli, Duccio M.
Masetti, Riccardo
Ricci, Emilia
Toni, Francesco
Zama, Daniele
Maffei, Monica
Gentili, Andrea
Parmeggiani, Antonia
Pession, Andrea
Franzoni, Emilio
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2014, 18 (05) : 632 - 640
[5] Life-threatening complications of spinal manipulation
Ernst, E
STROKE, 2001, 32 (03) : 809 - 810
[6] LIFE-THREATENING GASTROINTESTINAL COMPLICATIONS OF LEUKEMIA
HUNTER, TB
BJELLAND, JC
MOUNT SINAI JOURNAL OF MEDICINE, 1984, 51 (04): : 508 - 515
[7] LIFE-THREATENING COMPLICATIONS IN SYSTEMIC VASCULITIS
Cid, M. C.
Espigol-Frigole, G.
Prieto-Gonzalez, S.
Hernandez-Rodriguez, J.
Garcia-Martinez, A.
ANNALS OF THE RHEUMATIC DISEASES, 2017, 76 : 27 - 28
[8] An unexpected life-threatening cause of kidney failure
Gliga, Mirela Liana
Chirila, Cristian
Cotoi, Ovidiu
Gliga, Mihail Gheorghe
Morariu, Silviu
Chirila, Paula
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I2230 - I2230
[9] Life-threatening complications of the Atkins diet?
Manninen, Anssi H.
LANCET, 2006, 368 (9529): : 23 - 23
[10] Life-threatening complications of systemic sclerosis
Cossio, M
Menon, Y
Wilson, W
deBoisblanc, BP
CRITICAL CARE CLINICS, 2002, 18 (04) : 819 - +

← 1 2 3 4 5 →