病历摘要例1.男,1小时。第1胎第1产,足月顺产。出生后即发现全身皮肤如蒙上一层棕黄色羊皮纸样包膜。母妊娠期间身体健康,未用任何药物。家族中无类似病史。体检:发育营养一般,体温36.8℃,脉搏140次/分,呼吸44次/分,体重3000g。反应好,哭声大。全身皮肤除手掌外,犹如一层干燥的火棉胶样薄膜,发亮,轻度肿胀,四肢屈曲,伸展时皮肤扯紧,屈曲时起皱纹,两眼睑略外翻,结膜充血,角膜干燥。鼻梁梢塌陷,鼻孔小。面颊紧张呈张口状,吞咽功能尚好。心、肺、腹未见异常。手足如腊状,水肿,触之僵硬。染色体核型46xy。诊断为火棉胶样婴儿(见 Case history summary 1. Male, 1 hour. The first birth of the first child, full-term delivery. Born after birth that body cast over a layer of brown parchment like envelope. During pregnancy, pregnant women, not using any drugs. No similar family history. Physical examination: general nutrition, body temperature 36.8 ℃, pulse 140 beats / min, breathing 44 beats / min, weight 3000g. Good response, big cries. In addition to the palm of your hand, the whole body is like a layer of dry sponge-like film, shiny, slightly swollen, limbs flexion, stretching skin tight, buckling wrinkles, eyelid slightly eversion, conjunctival hyperemia, corneal dryness. Nasal tip collapsed, nostrils small. Tension was cheek mouth-like, swallowing function is still good. Heart, lung, abdomen no exception. Hands and feet like waxy, edema, touch the stiff. Chromosome karyotype 46xy. Diagnosed as fire cotton gum-like baby (see