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Goldenhar 综合征又称眼—耳—脊椎发育不良综合征。此种异常较为罕见,现报告1例如下。女婴出生12小时住院号57762 出生后,发现双上眼睑中央部分缺损,耳前有赘生物。患儿系二胎,足月顺产,家族中无近亲婚配史。出生时体重2.3kg,身长44mm,头围30mm,出生时Aphar 评分10分。面部对称,双侧耳屏处可见附耳,右耳屏至口角中线处有一3×3mm 肉质赘生物。外耳道无闭锁,双侧耳廓大小正常。脊椎无畸形,心脏听诊正常。
Goldenhar syndrome, also known as eye - ear - spondylodysplasia syndrome. Such abnormalities are relatively rare, 1 is reported below. Baby born 12 hours hospital number 57762 after birth, found in the middle of the upper eyelid defect, there are vegetation in front of the ear. Children with a second child, full-term spontaneous abortion, the family history of unmarried marriage. Birth weight 2.3kg, length 44mm, head circumference 30mm, birth Aphar score of 10 points. Facial symmetry, bilateral tragus can be seen with the appendix, the right tragus to the mouth at the midline has a 3 × 3mm fleshy vegetation. External auditory canal without occlusion, bilateral auricle size normal. Spine without deformity, auscultation of the heart normal.