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

[41] Anesthetic care of a child with Kabuki syndrome
Elmitwalli, I.
Banoub, R.
Heng, R.
Tobias, J. D.
PEDIATRIC ANESTHESIA AND CRITICAL CARE JOURNAL, 2023, 11 (01): : 16 - 22
[42] Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
Gurbuz, Fatih
Yuregir, Ozge Ozalp
Ceylaner, Serdar
Topaloglu, Ali Kemal
Yuksel, Bilgin
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (01) : 105 - 106
[43] Hypoplastic Left Heart Syndrome in Patients with Kabuki Syndrome
Kung, Grace C.
Chang, Philip M.
Sklansky, Mark S.
Randolph, Linda M.
PEDIATRIC CARDIOLOGY, 2010, 31 (01) : 138 - 141
[44] Body Proportions in Children with Kabuki Syndrome
Penders, Bas
Schott, Nina
Gerver, Willem-Jan M.
Stumpel, Constance T. R. M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (03) : 610 - 614
[45] Prenatal and perinatal history in Kabuki Syndrome
Rosenberg, Chen E.
Daly, Tara
Hung, Christina
Hsueh, Irene
Lindsley, Andrew W.
Bodamer, Olaf
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (01) : 85 - 92
[46] Congenital heart defects in Kabuki syndrome
Digilio, MC
Marino, B
Toscano, A
Giannotti, A
Dallapiccola, B
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 100 (04): : 269 - 274
[47] Prostaglandin E1 in infants with congenital diaphragmatic hernia (CDH) and life-threatening pulmonary hypertension
Duc, Kevin Le
Mur, Sebastien
Sharma, Dyuti
Aubry, Estelle
Recher, Morgan
Rakza, Thameur
Storme, Laurent
JOURNAL OF PEDIATRIC SURGERY, 2020, 55 (09) : 1872 - 1878
[48] Tension gastrothorax in late-onset congenital diaphragmatic hernia, a rare but life-threatening condition A case report
Song, In-Hag
MEDICINE, 2021, 100 (07) : E24815
[49] Fetal Phenotype and Prenatal Diagnosis of Kabuki Syndrome
Pan, Yan
Yao, Hong
Chen, Gongli
Tan, Qiong
Chang, Qing
Ma, Yongyi
Liang, Zhiqing
MATERNAL-FETAL MEDICINE, 2023, 5 (03) : 187 - 191
[50] Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome
Uejima, Yoji
Yoshida, Kenji
Ohashi, Hirofumi
IMMUNOLOGICAL MEDICINE, 2024, 47 (04) : 275 - 277

← 1 2 3 4 5 →