Unexpected life-threatening complications in Kabuki syndrome.
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.
van Haelst
M M
MM
Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands. vanhaelst@kgen.azr.nl
Brooks
A S
AS
Hoogeboom
J
J
Wessels
M W
MW
Tibboel
D
D
de Jongste
J C
JC
den Hollander
J C
JC
Bongers-Schokking
J J
JJ
Niermeijer
M F
MF
Willems
P J
PJ
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