Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

Abstract

We report our experience with a case of Kabuki syndrome complicated by multiple anomalies requiring surgery. The patient was a male infant born at 41 weeks 5 days gestation, weighing 4,468 g, who presented with an imperforate anus and cleft palate. A radical operation was performed under a diagnosis of low imperforate anus without fistula. However, an anastomotic leakage occurred, requiring a colostomy. Despite the presence of an asymptomatic concomitant Morgagni hernia, the patient was placed under follow-up observation. Eight months after the infant’s birth, the stoma was closed. Eleven months after birth, Kabuki syndrome was suspec‐ ted because of the characteristic facial features, and a mutation in MLL2 was diagnosed.