Unexpected life-threatening complications in Kabuki syndrome.

TitleUnexpected life-threatening complications in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2000
Authorsvan Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ
JournalAmerican journal of medical genetics
Date Published2000 Sep 11

Kabuki syndrome is a rare multiple congenitali 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 stenosisi of the central airways (not previously reported), extrahepatic biliaryi atresiai, and congenital diaphragmatic herniai.

Alternate JournalAm. J. Med. Genet.
Citation Key10982974