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崔×,女,4岁,以突发性间断抽搐半小时伴呕吐为主诉入院。抽搐时双眼凝视,口吐白沫,不伴发热及头痛,二便正常。经注射“安定”,“水含氯醛”灌肠后抽搐停止。否认外伤及抽搐病史。生后经阴道排便,1岁时阴道反复少量流血,阴唇增大,阴蒂肥大,会阴着色深,有阴毛。查染色体13、114平衡易位,追查家系三代(详见家系谱附后)。当时诊断:先天性阴道直肠漏、性早熟、家族性染色体13、14平衡易位。1岁4个月行阴道直肠漏修
Cui ×, female, 4 years old, with intermittent seizures for half an hour with vomiting as the main complaint hospitalization. Eyes stare when convulsions, foaming at the mouth, without fever and headache, two will be normal. After injection of “stability”, “water chloral hydrate” enema convulsions stopped. Denied the history of trauma and convulsions. Transvaginal defecation after birth, 1-year-old repeated vaginal bleeding, labia, clitoris hypertrophy, perineal color deep, pubic hair. Chromosome 13,114 check the balance of translocation, tracing the family of three generations (see pedigree attached). At that time the diagnosis: congenital vaginal leakage, precocious puberty, familial chromosome 13,14 balanced translocation. 1 year and 4 months to do vaginal rectal missed repair