Case observations reveal unexpected complications in patients with Kabuki syndrome, suggesting need for vigilant monitoring.
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.
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Haelst et al. (2000) studied this question.
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