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患者梁××女18岁双眼视物不清,右上睑下垂17年。出生后,右眼不能睁开,1岁时上睑不能上提。10岁以后身高再未增加,身体短小、指(趾)粗短、畸形。家族三代无近亲联婚及类似疾患。心肺正常,神志清,智力正常。听力正常。体重41kg,身高135cm,四肢粗短,皮下脂肪丰满,肌肉发育良好。上肢长39cm,手长13.0cm(掌长7.8cm,掌宽6.8cm)。手指粗短,呈弓形,关节运动差(图1)。下肢长59cm,脚长18.0cm(图2)。颈长6.2cm。肝功、心电图、胸部拍片均正常。染色体形态、结构和数目均正常。视力右眼0.08(—16.00DS=0.4),左眼0.02(—20.00DS=0.3)。眼压右眼3.25kpa,左眼3.86kpa。色觉正常。右眼睑裂纵径为4mm,上睑缘遮盖角膜2/3,提上睑肌肌力测定为2mm。左眼睑裂
Liang XX female patient 18 years old eyes blurred vision, right upper eyelid ptosis 17 years. After birth, the right eye can not open, 1 year old upper eyelid can not mention. No increase in height after 10 years old, short body, refers to (toe) stubby, deformity. Three generations of family unmarried relatives and similar illnesses. Cardiopulmonary normal, delirious, mental normal. Normal hearing. Weight 41kg, height 135cm, limbs stubby, subcutaneous fat plump, muscular development is good. 39cm long arm, hand 13.0cm (palm length 7.8cm, palm width 6.8cm). Finger short, arched, poor joint movement (Figure 1). Lower extremity length 59cm, foot length 18.0cm (Figure 2). Neck length 6.2cm. Liver function, electrocardiogram, chest film are normal. Chromosome morphology, structure and number are normal. Visual right eye 0.08 (-16.00DS = 0.4), left eye 0.02 (-20.00DS = 0.3). Intraocular pressure right eye 3.25kpa, left eye 3.86kpa. Normal color vision. The right eyelid tear longitudinal diameter of 4mm, the upper eyelid cover the cornea 2/3, levator muscle strength measured 2mm. Left eye palpebral fissure