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男,8月,土家族。第3胎,足月平产,母乳喂养。产后第4天发现皮肤、巩膜黄疸,至今未退。曾服中药治疗,黄疸无变化。食欲好,大小便正常。运动、智力发育明显低于同龄儿。不能竖颈、独坐,不会喊爸妈,反应迟钝。父母系近亲婚配。其母巩膜中度黄染。患儿大姐10岁,六指畸形。二姐1.5岁时死亡,死因不详。第4胎流产。母系、父系中无类似病人(家系图)。体查:发育营养正常,无特殊外貌,皮肤、巩膜黄疸明显,无出血点、瘀斑,全身浅表淋巴结不大。头竖不起,前囟1.5cm×1.5cm,平。心、肺正常,肝肋下1cm,质软,无压痛,脾未扪及。安静时四肢张力较低、哭吵时增强,双上肢向后伸屈,膝反射稍亢进。克、布氏征阴性。血红蛋
Male, August, Tujia. The third child, full-term, breastfeeding. 4 days postpartum found skin, sclera jaundice, has not withdrawn. Had served Chinese medicine, jaundice no change. Good appetite, normal urine. Sports, mental development was significantly lower than their peers. Can not be vertical neck, sitting alone, will not shout parents, unresponsive. Parents are close relatives of marriage. The mother sclera moderate yellow dye. Big sister with children 10 years old, six fingers deformity. Second sister died at the age of 1.5, the cause of death is unknown. 4th abortion. Maternal, paternal no similar patient (pedigree). Physical examination: the development of normal nutrition, no special appearance, skin, sclera jaundice obvious, no bleeding spots, ecchymosis, systemic superficial lymph nodes is not. Can not afford the first vertical, front bregma 1.5cm × 1.5cm, flat. Heart, lung normal, liver ribs 1cm, soft, no tenderness, the spleen is not palpable. Quiet limbs lower tension, increased crying noise, the upper limb flexion and extension, knee reflex slightly hyperthyroidism.克, 布 氏 征 negative. Hemoglobin