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例1,男,8个月,第1胎。过期妊娠20天后正常分娩,人工喂养。出生时体重2.75kg,身长47cm,经常伸舌,不能抬头,不能坐。体检:身长72cm,体重6.5kg。扁头,上腭裂,头围40cm,胸围43cm。心肺和腹部检查未见明显异常。全身肌张力低下。两侧睾丸正常,阴茎较正常同龄男孩小。双侧通贯手,左小指向掌面弯曲,伸不直。在随访过程中发现当病儿年龄达3~+岁时,仍不会说话和走路,但听力正常,身高和体重无明显异常。
Example 1, male, 8 months, first child. 20 days after the expiration of normal childbirth, artificial feeding. Birth weight 2.75kg, length 47cm, often stretch the tongue, can not look up, can not sit. Physical examination: length 72cm, weight 6.5kg. Flat head, cleft palate, head circumference 40cm, chest 43cm. Cardiopulmonary and abdominal examination showed no significant abnormalities. Systemic muscle tone is low. Normal testis on both sides of the penis than the normal boy of the same age. Bilateral pass hand, the left small pointed palm curved, not straight extension. In the follow-up process found that when the sick child’s age up to 3 ~ + years old, still can not speak and walk, but normal hearing, height and weight were normal.