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患者,男,1984年10月27日生,第1胎,足月顺产,出生体重2030g,身长42cm。发育明显低于同龄儿童,5个月能抬头,1岁能独坐,2岁零5个月能站立,8岁零5个月会走路,至今走路不稳。吐字不清,只能发单音字。生后经常感冒,患肺炎。查体:体重12kg,身长63cm,头围40.5cm,表情呆滞,前囟大,可容3指。眼距稍宽,眼窝深,眼裂下斜。球形鼻尖,口角向下,上唇短,舌宽大,有纵裂。大耳廓,耳位底,颈短。双手呈特殊式握拳。双侧食指曲指(手术亦未能伸开),左手通贯手。双脚第4趾短,叠于第5趾上,双侧扁平足。浅铜色皮肤,头发密集,后发际低。骨龄延迟,相当于2岁儿童。脑电图正常,心肺正常。外生殖器发育正常,包皮过长。中度智力低下。患儿出生时母龄28岁,父龄29岁。双亲非近亲结婚。
Patient, male, born on October 27, 1984, first child, term full-term birth, birth weight 2030g, length 42cm. Development was significantly lower than the same age children, 5 months to raise their heads, 1 year old can sit alone, 2 years and 5 months to stand, 8 years and 5 months will walk, walking so far instability. Can not pronounce clearly, can only pronounce the pronunciation. After birth often cold, suffering from pneumonia. Physical examination: weight 12kg, length 63cm, head circumference 40.5cm, dull expression, anterior fontanelle can accommodate 3 means. Slightly wider eyes, deep orbital eyes, eyes split under the oblique. Spherical nose tip, mouth down, short upper lip, tongue wide, longitudinal crack. Large auricle, ears at the end, short neck. Hands are special type of fist. Bilateral index finger (surgery also failed to stretch), left hand through hand. The fourth toe of both feet short, stacked on the 5th toe, bilateral flat feet. Light copper skin, hair-intensive, low after the hair. Bone age is delayed, equivalent to 2-year-old children. EEG normal, normal heart and lung. External genital development is normal, the prepuce. Moderate mental retardation. The child was 28 years old when the child was born, and his father was 29 years old. Parents are married to non-relatives.