一例罕见的女性新生儿完全性隐眼并疑似弗雷泽综合征。

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL
Rithika Ramadugu, Satwik Kuppili, Tarun Kumar Suvvari, Vindhya Vasini Lella, Vimal Thomas
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引用次数: 0

摘要

隐眼症是一种罕见的先天性眼畸形,其特征是没有睑裂。隐眼症通常与弗雷泽综合征有关。我们报告一例3天大的亚洲女性新生儿,患有完全性单侧隐眼,右眼睑缺失。经检查,右眼没有眼睑、眉毛和睫毛,统称为附件结构。左眼显然是正常的。根据父母的决定,由于视力预后不佳,没有进行手术治疗。我们建议产前基因筛查和未来怀孕的测试。这些发现表明,遗传咨询和检测对于识别潜在的基因突变和促进适当管理的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.

A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.

A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.

A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.

Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser's syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent's decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.

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来源期刊
Clinical Medicine Insights. Case Reports
Clinical Medicine Insights. Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
1.10
自引率
0.00%
发文量
57
审稿时长
8 weeks
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