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患儿,女,10个月,第1胎,足月顺产,出生体重2.4kg。生长迟缓,智力低下,不会坐及站立,流涎查体。特殊面容,眼距宽,鼻梁低,低位大耳。体重5.15kg,头围40cm,前囟2.5×2.5cm,枕骨扁平,无齿,无小阴唇及阴道,肌张力差。心肺未发现明显异常。皮纹纤细平坦,无明显异常。父母否认接触有害物质史,否认有此病家族史。染色体检查:外周血淋巴细
Children, women, 10 months, the first child, term full-term, birth weight 2.4kg. Growth retardation, mental retardation, will not sit and stand, salivation examination. Special face, wide eyes, low nose, low ears. Body weight 5.15kg, head circumference 40cm, anterior fontanel 2.5 × 2.5cm, occipital flat, no teeth, no labia minora and vagina, poor muscle tone. Cardiopulmonary no significant abnormalities found. Skin smooth and slender, no obvious abnormalities. Parents denied exposure to hazardous substances history, denied having family history of this disease. Chromosome examination: peripheral blood lymphocytes