Unexpected life-threatening complications in Kabuki syndrome

Am J Med Genet. 2000 Sep 11;94(2):170-3. doi: 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / physiopathology*
  • Biliary Atresia
  • Bronchi / abnormalities*
  • Child
  • Child, Preschool
  • Hernia, Diaphragmatic
  • Humans
  • Intellectual Disability
  • Male
  • Radiography
  • Syndrome