title: Unexpected life-threatening complications in Kabuki syndrome.
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-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia.
authors.affiliation: Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands. vanhaelst@kgen.azr.nl
authors.forename: M M
authors.initials: MM
authors.lastname: van Haelst
authors.forename: A S
authors.initials: AS
authors.lastname: Brooks
authors.forename: J
authors.initials: J
authors.lastname: Hoogeboom
authors.forename: M W
authors.initials: MW
authors.lastname: Wessels
authors.forename: D
authors.initials: D
authors.lastname: Tibboel
authors.forename: J C
authors.initials: JC
authors.lastname: de Jongste
authors.forename: J C
authors.initials: JC
authors.lastname: den Hollander
authors.forename: J J
authors.initials: JJ
authors.lastname: Bongers-Schokking
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000503:physiopathology*; D001656:Biliary Atresia; D001980:Bronchi / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D006548:Hernia, Diaphragmatic; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D011859:Radiography; D013577:Syndrome