Abstract
A 8 -month-old of Cornelia de Lange syndrome complicated by esophageal hiatus hernia is presented. This is the second case of Cornelia de Lange syndrome with esophageal hiatus hernia in Japan. The patient showed low-birth-weight, growth retardation, generalized hirsutism, synophrys, characteristic facial feature, hand abnormalities and vomiting. An upper gastrointestinal series examination revealed esophageal hiatus hernia, and pH study revealed marked gastroesophageal reflux (GER), for which we performed Nissen's cardiac fundoplication. Though the vomiting disappeared after surgery, she has been unable to take oral feeding.
