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本文报道一例33岁健康妇女在第四胎妊娠34周时,剖腹产生下一男婴,丈夫43岁,他们无血缘关系。婴儿生后明显肌张力低下,阴囊、手和背部淋巴性浮肿。Apgar评分,1和5分钟分别是5和8。头颅不对称、突眼、眼距宽、鼻孔前倾、上唇长、耳低位、上腭高拱、悬壅垂裂、右侧隐睾、心脏有杂音(肺动脉瓣狭窄)、右肾肿大、骶沟不规整、腹部有两个2×1cm咖啡色斑,吸吮反射缺乏、拥抱反射减弱。化验检查除贫血外(Hbllmg/dl)其余正常。 1个月时肾超声和静脉肾盂摄影显示集
This article reports a 33-year-old healthy woman with the next baby born by C-section at 34 weeks of gestation and a 43-year-old husband with no blood relationship. Significant hypotonia in infants after birth, scrotum, hand and back lymphatic edema. Apgar score, 1 and 5 minutes are 5 and 8 respectively. Head asymmetry, exophthalmos, eyes wide, forward nostril, lip length, low ear, the arch on the palate, hanging hanging vertical split, the right cryptorchidism, heart murmur (pulmonary valve stenosis), right kidney enlargement, Sacral canal irregularities, abdomen has two 2 × 1cm brown spots, lack of sucking reflex, hug reflex. Laboratory tests except anemia (Hbllmg / dl) remaining normal. Renal ultrasound and intravenous pyelography were shown at 1 month