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
相关论文
共 50 条
  • [21] Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome
    Dormann, S
    Krüger, M
    Hentschel, R
    Rasenack, R
    Strahm, B
    Kontny, U
    Niemeyer, C
    EUROPEAN JOURNAL OF PEDIATRICS, 2004, 163 (07) : 374 - 377
  • [22] Diogenes syndrome causing life-threatening complications of Paget's disease
    Sami, Musa
    Tucker, James
    Norris, Karin
    Townsend, Giles
    Odemuyiwa, Olusola
    BRITISH JOURNAL OF HOSPITAL MEDICINE, 2014, 75 (08) : 470 - 471
  • [23] Life-threatening complications among women with severe ovarian hyperstimulation syndrome
    Selter, Jessica
    Wen, Timothy
    Palmerola, Katherine L.
    Friedman, Alexander M.
    Williams, Zev
    Forman, Eric J.
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2019, 220 (06) : 575.e1 - 575.e11
  • [24] Natural history and life-threatening complications in Myhre syndrome and review of the literature
    Livia Garavelli
    Ilenia Maini
    Federica Baccilieri
    Ivan Ivanovski
    Marzia Pollazzon
    Simonetta Rosato
    Lorenzo Iughetti
    Sheila Unger
    Andrea Superti-Furga
    Marco Tartaglia
    European Journal of Pediatrics, 2016, 175 : 1307 - 1315
  • [25] Sticky platelet syndrome: an important cause of life-threatening thrombotic complications
    Kubisz, Peter
    Stanciakova, Lucia
    Stasko, Jan
    Dobrotova, Miroslava
    Skerenova, Maria
    Ivankova, Jela
    Holly, Pavol
    EXPERT REVIEW OF HEMATOLOGY, 2016, 9 (01) : 21 - 35
  • [26] Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome
    Sabine Dormann
    Marcus Krüger
    Roland Hentschel
    Regina Rasenack
    Brigitte Strahm
    Udo Kontny
    Charlotte Niemeyer
    European Journal of Pediatrics, 2004, 163 : 374 - 377
  • [27] LIFE-THREATENING COMPLICATIONS OF INFUSION THERAPY IN NEWBORN
    ENGERT, J
    DASCHNER, F
    ZEITSCHRIFT FUR KINDERCHIRURGIE UND GRENZGEBIETE, 1972, 11 (02): : 258 - &
  • [28] EMERGENCY HEMIPELVECTOMY IN THE CONTROL OF LIFE-THREATENING COMPLICATIONS
    MALAWER, MM
    ZIELINSKI, CJ
    SURGERY, 1983, 93 (06) : 778 - 785
  • [29] LIFE-THREATENING COMPLICATIONS OF INFECTIVE ENDOCARDITIS AND THEIR MANAGEMENT
    WEINSTEIN, L
    ARCHIVES OF INTERNAL MEDICINE, 1986, 146 (05) : 953 - 957
  • [30] Acute life-threatening complications of lung transplantation
    Collins, J
    Kuhlman, JE
    RADIOLOGY, 1996, 201 : 330 - 330
12345