一例爱德华综合征患者出现小眼畸形。
Microphthalmia in a case of Edward syndrome.
作者信息
Acar D Erginturk, Acar U, Ozdemir O, Ozen Z T, Cakar E S
机构信息
Ministry of Health, Zekai Tahir Burak Women's Health Research and Education Hospital , Ankara , Turkey and.
出版信息
Semin Ophthalmol. 2014 Mar;29(2):114-7. doi: 10.3109/08820538.2013.874486. Epub 2014 Jan 24.
AIM
To present an infant of trisomy 18 (Edwards Syndrome) with unilateral microphthalmia.
METHODS
A female infant who was born at 41 weeks of gestation had been diagnosed with Edwards Syndrome (ES). On ophthalmic examination, microphthalmia, microcornea, optic disc coloboma, and persistent hyaloid artery were determined in the left eye. In addition, abnormalities in the ears, hands, feet, and cardiovascular system were present.
DISCUSSION
With this case report, we aimed to highlight the relationship between ocular disgenesis and chromosomal disorders and the importance of prenatal testing and genetic counseling for parents.
目的
报告1例患有18三体综合征（爱德华兹综合征）并伴有单侧小眼畸形的婴儿。
方法
一名孕41周出生的女婴被诊断为爱德华兹综合征（ES）。眼科检查发现左眼存在小眼畸形、小角膜、视盘缺损和永存玻璃体动脉。此外，耳部、手部、足部和心血管系统也存在异常。
讨论
通过本病例报告，我们旨在强调眼发育异常与染色体疾病之间的关系，以及产前检查和为父母提供遗传咨询的重要性。
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