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患儿,女,现年12岁,3 6/12岁时因个子矮小,走路不稳,智力明显落后,于1984年12月5日来我院门诊。患儿系第一胎过期产(胎龄42周),出生体重3.1kg。生后白天过分安静,夜间常哭吵;食欲差、食量小且进食极慢,2岁以后学走路,学说话,但语言含混不清至3岁多仍不能清楚表达简单用语。院外曾多次就诊疑Turner氏综合征、佝偻病等,经治疗无好转直至3 6/12岁来我院就诊。查体:生长发育差似1～2岁小儿,表情呆滞、反应迟钝、颜面浮肿、贫血貌、头发稀少、塌鼻梁、眼距宽、舌宽厚、出牙16颗、颈短但
Children, women, aged 12, 3 6/12 years old because of short stature, walking instability, mental retardation, in December 5, 1984 came to our hospital. Children with the first child expired (gestational age 42 weeks), birth weight 3.1kg. After birth, she was too quiet during the day and often cried noisy during the night; poor appetite, low appetite and slow eating, learning to walk after 2 years of age and learn to speak, but the language is still unclear to 3 years old can not clearly express simple language. The hospital has repeatedly diagnosed Turner’s syndrome, rickets, etc., after treatment did not improve until 36/12 years old to our hospital. Physical examination: poor growth and development of children aged 1-2, sluggish, unresponsive, facial edema, anemia appearance, thinning hair, collapsed nose, wide eyes, tongue generous, teeth 16, short neck