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男性患儿28个月,不会站立及讲话,仅能坐,两手常抓摸头部.无呕吐及抽搐,饮食及大小便正常.1983年3月37日来我院就诊,父母非近亲结婚,也无毒物接触史;母亲早孕期常患感冒;患儿出生后无特殊病史.检查:身高86cm,体重11kg,头颅外形较大,头围45cm,前额较平坦,略呈尖顶状,口、鼻和眼睛较小.双眼底乳头边界鼻侧稍模糊,颅神经正常.心肺听诊无异常,四肢关节及脊柱无畸形,两侧睾丸存在,皮肤色泽正常,发粗而黑.双足均有6个趾,第5、6趾对称性并联融合而趾甲清晰分开,第4、5趾间呈蹼状.头颅X光正侧位平片(X光号37044)显示头颅发育较小,诸颅缝除矢状缝外均模糊不清,未见钙化灶,蝶鞍形态大小正常,前后床突相互融合.其他检查无异常.
Male children 28 months, will not stand and speak, can only sit, hands often scratching the head. No vomiting and convulsions, diet and normal urine. March 37, 1983 to our hospital, parents and non-relatives get married , No history of exposure to poisons; mother, a common cold during first trimester; no special history of childbirth after birth Check: height 86cm, weight 11kg, larger head shape, head circumference 45cm, forehead relatively flat, Nose and eyes smaller .Bilateral nipple border nasal slightly cloudy, normal cranial nerves. Cardiopulmonary auscultation no abnormalities, limbs and joints and spine without deformity, both sides of the testes exist, the skin color is normal, thick and dark. A toe, the 5th and 5th symmetry parallel fusion and nails were clearly separated, webbed between the fourth and fifth interdigital web.Color positive skull X-ray (X-ray 37044) showed less development of the skull, the cranial suture Sagittal sutures were blurred, no calcification, the size of the normal shape of the sellae, before and after bed sudden fusion with each other. Other tests were normal.