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先证者(Ⅲ_1),男,11岁。患儿因反复性腹痛、呕吐26天收住院。入院检查:全身皮肤呈暗黄色,口唇粘膜及双手双足掌面有大小不等的黑色斑点,直径从1 mm 至5 mm,呈圆形、椭圆形及不规则形状。腹稍胀,右中上腹部有触痛,肛查为黄软便,Hb 16.4g/L。第一次全消化道钡餐示胃十二指肠套叠,第二次钡餐示套叠复位,钡灌肠未见异常。胃镜见胃及十二指肠息肉,腹部 B 超示胃内肿物及先天性胆总管囊肿。入院后行剖腹探查术,术中见胃
The proband (Ⅲ_1), male, 11 years old. Children with recurrent abdominal pain, vomiting admitted to hospital for 26 days. Admission examination: the whole body was dark yellow skin, lips mucous membrane and both hands palms have black spots ranging in size from 1 mm to 5 mm in diameter, oval and irregular shape. Slight swollen abdomen, right middle and upper abdomen tenderness, anal yellow soft stool, Hb 16.4g / L. The first total gastrointestinal barium meal gastroduodenal intussusception, the second barium meal showed telescopic reset, barium enema no exception. Gastroscopy see the stomach and duodenal polyps, abdomen B-ultrasound shows the stomach and congenital choledochal cyst. After admission, laparotomy, intraoperative stomach