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伴有面部裂隙和羊膜带的严重眼睑畸形

Severe Eyelid Malformation With Facial Clefting and Amniotic Bands.

作者信息

Dohlman Jenny C, Elliott Alexandra T

机构信息

Department of Ophthalmology, Krieger Eye Institute/Sinai Hospital of Baltimore, Baltimore, Maryland.

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, U.S.A.

出版信息

Ophthalmic Plast Reconstr Surg. 2023;39(4):e117-e119. doi: 10.1097/IOP.0000000000002374. Epub 2023 Mar 9.

DOI:10.1097/IOP.0000000000002374
PMID:36893073
Abstract

Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying genetic cause of amniotic band sequence. Here, the authors review the case of an infant born with large, 4-eyelid colobomatous defects in the setting of facial clefts, amniotic bands and an underlying SMOC1 mutation, which has not previously been linked to amniotic band sequence or eyelid colobomas. Reconstructive technique and the postoperative course are described, and underlying etiologic theories of amniotic band sequence are reviewed and expanded upon. Although amblyopia prevention in this patient with poor visual potential was not a consideration, the goals of improving the patient's ocular surface and maintaining eye contact were achieved.

摘要

羊膜带可导致与面部裂隙相邻的眼睑缺损,从而造成严重且高度可变的眼睑畸形。目前尚不清楚羊膜带序列的潜在遗传病因。在此,作者回顾了一例婴儿病例,该婴儿出生时伴有面部裂隙、羊膜带及潜在的SMOC1突变,存在较大的四眼睑缺损,此前SMOC1突变未与羊膜带序列或眼睑缺损相关联。文中描述了重建技术及术后过程,并对羊膜带序列的潜在病因理论进行了回顾和扩展。尽管未考虑预防该视觉潜力较差患者的弱视问题,但实现了改善患者眼表及保持眼神接触的目标。

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