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2q37缺失综合征相关眼面部畸形1例

A case of 2q37 deletion syndrome related ophthalmo facial malformation
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摘要 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。 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.
作者 吴锦熙 邓坤明 王恺桢 周太平 Wu Jinxi;Deng Kunming;Wang Kaizhen;Zhou Taiping(Xiamen Eye Center of Xiamen University,Fujian Provincial Key Laboratory of Corneal&Ocular Surface Diseases,Xiamen 361002,China;Department of Ophthalmology,Xiamen Huli District Maternity and Child Care Hospital,Xiamen 361009,China)
机构地区 厦门大学附属厦门眼科中心福建省眼表与角膜病重点实验室 厦门市湖里区妇幼保健院眼科
出处 《中华眼科杂志》 CAS CSCD 北大核心 2022年第11期920-922,共3页 Chinese Journal of Ophthalmology
基金 福建省厦门市医疗卫生指导性项目(3502Z20209186)。
关键词 眼睑下垂 染色体缺失 染色体 人 2对 微阵列分析 Blepharoptosis Chromosome deletion Chromosomes,human,pair 2 Microarray analysis
分类号 R779.6 [医药卫生—眼科]
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中华眼科杂志
2022年 第11期

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