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患儿,男,7岁。从小偏食,活动少。足月小样儿,母乳喂养。1岁走,3岁前囟闭合。易患呼吸道感染,有高热惊厥史。父母亲非近亲结婚,家族中无类似病儿。身高98cm,体重15kg,头围49cm,胸围56cm,指距100cm。智力正常,小头,头发稀,前额突出,突眼,鼻根部凹,眼距宽,颊红,人中浅,龋齿、颈短,颈部活动不受限;桶状胸,翼状肩胛,心(一),肺(一),腹部膨隆,肝(一),脾(一),四肢(一),包茎。视力:左眼:0.7;右眼:0.6;眼底(一)。实验室检查:血红蛋白11g/L,自细胞170×10~9/
Children, male, 7 years old. Small partial eclipse, activity less. Full moon, breastfeeding. 1 year old, 3 years before the fontanelle closed. Susceptible to respiratory infections, a history of febrile seizures. Parents are married to non-relatives and have no similar illness in the family. Height 98cm, weight 15kg, head circumference 49cm, bust 56cm, finger pitch 100cm. Normal intelligence, small head, thin hair, prominent forehead, exophthalmos, nasal root concave, wide eyes, cheek red, shallow people, caries, short neck, neck activity is not limited; barrel chest, wing scapula, heart (A), lung (a), bulging abdomen, liver (a), spleen (a), limbs (a), phimosis. Eyesight: left eye: 0.7; right eye: 0.6; fundus (a). Laboratory tests: Hemoglobin 11g / L, since the cells 170 × 10 ~ 9 /