A child complained of bilateral congenital non-progressive ptosis for 18 months. According to the clinical characteristics, systemic development and chromosome microarray analysis, the child was diagnosed as 2q37 deletion syndrome related ophthalmo facial malformation. The patient underwent the frontalis aponeurosis flap suspension. After operation, the appearance of eyelids was significantly improved.
1例主诉为双眼上眼皮抬举受限18个月的患儿就诊眼科。根据临床特点、全身发育情况、染色体微阵列分析检测结果，诊断为2q37缺失综合征相关眼面部畸形。患儿行双眼上睑下垂矫正联合双眼内眦赘皮矫正术后，双眼上睑位于角膜上缘，无需抬头视物，眼周外观也得到明显改善。.