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先证者女性,第一胎,孕期39周剖腹产(臀先露),出生体重2500克,体检示低耳位、小颌、枕骨突出、内眦赘皮、三角嘴、肢体肌张力增强、角弓反张。3个月时仍持续性肌张力亢进伴痉挛,血清IgA缺乏(12月时恢复正常),因对牛奶过敏,有呕吐与湿疹。脑电图、眼底、听力、尿与血氨基酸含量,血清IgM,IgG,尿粘多糖,头颅X线,尿路摄影等检查全部正常。父母35岁,非血缘结婚,母患糖尿病。
First proband female, first child, 39 weeks of gestation, caesarean section (breech presentation), birth weight 2500 grams, physical examination showed low ear, small jaw, occipital bone prominent, epicanthus, triangular mouth, limb muscle tone enhancement, angle Bow anti-Zhang. Persistent hypertonia with cramps at 3 months, lack of serum IgA (normalized at December), allergic to milk, vomiting and eczema. EEG, fundus, hearing, urine and blood levels of amino acids, serum IgM, IgG, urine mucopolysaccharide, skull X ray, urinary tract examination were all normal. Parents 35 years old, non-kin married, mother diabetes.