Unexpected life-threatening complications in Kabuki syndrome

Authors
van Haelst, MM Brooks, AS Hoogeboom, J Wessels, MW Tibboel, D de Jongste, JC den Hollander, JC Bongers-Schokking, JJ Niermeijer, MF Willems, PJ
Citation
Mm. Van Haelst et al., Unexpected life-threatening complications in Kabuki syndrome, AM J MED G, 94(2), 2000, pp. 170-173
Citations number
18
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
94
Issue
2
Year of publication
2000
Pages
170 - 173
Database
ISI
SICI code
0148-7299(20000911)94:2<170:ULCIKS>2.0.ZU;2-V
Abstract
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-thr eatening complications, including stenosis of the central airways (not prev iously reported), extrahepatic biliary atresia, and congenital diaphragmati c hernia. (C) 2000 Wiley-Liss, Inc.