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患儿,女,8岁,足月顺产第一胎,出生体重3.15kg,生后无窒息。母孕期患妊娠中毒症。出生3个月时发现患儿双腿长度不等。5个月时因左侧先天性髋关节脱位而做了复位手术。逐渐出现鸡胸。1岁时智力落后于同龄儿。4岁至今,每年抽搐发作2-3次,大发作2次。发作时意识不清,双眼上翻,肢体抖动,约持续2h后缓解。发作前有呕吐,自述腹痛。父母非近亲婚配。否认家族史。身高136.0cm,上部量64.5cm,下部量72cm;体重21.0kg。头围50.0cm。指距136.5cm。消瘦。眼距稍宽,蓝色巩膜,未见晶状体脱位。双侧耳轮扁平,耳甲部分消失。小下颌,
Children, women, 8 years old, full-term first-term birth, birth weight 3.15kg, no suffocation after birth. Pregnancy pregnancy poisoning. Three months after birth, children’s legs were found to vary in length. At 5 months, the left side of the congenital dislocation of the hip and did a reset operation. Chicken breast gradually appear. 1 year old behind the same age children intelligence. 4-year-old so far, seizures 2-3 times a year, major episode 2 times. Sense of confusion, his eyes turned upside down, limb jitter, about 2h after the remission. Vomiting before the episode, self-reported abdominal pain. Parents non-relatives marriage. Denied family history. Height 136.0cm, the upper amount of 64.5cm, the lower amount of 72cm; weight 21.0kg. Head circumference 50.0cm. Finger pitch 136.5cm. thin. Slightly wider eyes, blue sclera, no dislocation of the lens. Both sides of the flat ear, ear pieces disappear. Small jaws,