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患儿,女,3个月。过期15天分娩,初生体重2000g。生后发育差,智力低。头围33.5cm,前囟2.5×2.5cm~2,后囟1.5×1.0cm~2。双眼裂不能分开,耳位低。上腭凹陷。口唇发绀,呼吸困难,有三凹征。脊柱、外阴正常。双上肢正常。双下肢肌张力低,双足2、3趾并趾,且第2趾较大。患儿出生时父母亲均27岁,非近亲婚配,无接触有毒物质及用药史。曾4次妊娠。第1胎8周自然流产;第2胎过期妊娠32天分娩一先天性心脏病伴并趾(双侧第2、3趾)、腭裂患儿,生后4个月夭折;第3胎人工流产;此婴为第4胎。
Children, women, 3 months. 15 days expired childbirth, birth weight 2000g. Poor after birth, mental retardation. Head circumference 33.5cm, anterior fontanel 2.5 × 2.5cm ~ 2, posterior fontanel 1.5 × 1.0cm ~ 2. Eyes can not be split, ear low. Depression on the palate. Cyanosis lips, breathing difficulties, there are three concave sign. Spine, normal vulva. Both upper extremities normal. Lower extremity muscle tone low, bipolar 2,3 toe and toe, and the second toe larger. Parents were 27 years old at birth, non-relatives marriage, no contact with toxic substances and medication history. Had 4 pregnancies. First child 8 weeks of spontaneous abortion; second child expired 32 days of pregnancy with congenital heart disease with toe (bilateral 2,3), cleft palate children, 4 months after birth died abortion; third abortion This baby is the fourth child.