食道裂孔ヘルニア及び先天性十二指腸閉鎖症を伴った Cornelia de Lange 症候群の2例

概要

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Two infants with Cornelia de Lange syndrome (CDL syndrome) associated with congenital duodenal atresia and esophageal hiatal hernia are reported.This syndrome was characterized by typical facial features, deformities of the extremities, growth and developmental delay, and was complicated by congential duodenal atresia and esophageal hiatal hernia. Both of infants were born after full term gestation, were small-for-date, and showed frequent vomiting after birth. They underwent gastrojejunostomy or duodeno-duodenostomy for duodenal atresia in their neonatal periods, but vomiting and recurrent respiratory infections were persistent after their operations. Subsequent upper Gl contrast studies performed at 10 or 17 months of age revealed hiatal hernia with gastresophageal reflux (GER). Nissen fundoplications were performed for GER with satisfactory results. CDL syndrome associated with gastrointestinal abnormalities is rare. Our cases suggest that early diagnosis of associated abnormalities followed by appropriate surgical treatment improves the delayed physical development and clinical manifestations.
日本小児外科学会の論文
1990-06-20