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眼整形治疗巴伯-赛综合征的方法。

Oculoplastic approach to treating Barber-Say syndrome.

作者信息

Ng John D, Rajguru Deepali S

机构信息

Casey Eye Institute, Oregon Health and Science University, Portland, 97239, USA.

出版信息

Ophthalmic Plast Reconstr Surg. 2006 May-Jun;22(3):232-4. doi: 10.1097/01.iop.0000217575.01061.00.

DOI:10.1097/01.iop.0000217575.01061.00
PMID:16714944
Abstract

Barber-Say syndrome is a rare dysmorphic disorder with prominent facial involvement. Its primary features include skin, hair, and eyelid abnormalities, the last of which can cause significant ocular symptoms. This report describes a patient with symptomatic corneal exposure secondary to Barber-Say syndrome who benefited from surgical intervention. The patient underwent a bilateral mid-face lift, eyelid repositioning and reconstruction, botulinum toxin application, and acellular dermis grafting. Surgical exploration revealed dysfunctional features of the external and internal eyelid anatomy not previously described with this condition. Improvement was noted in overall facial symmetry and appearance. In addition, the patient noted increased comfort after the resolution of dry eye symptoms and exposure keratopathy.

摘要

巴伯-赛综合征是一种罕见的畸形障碍,面部受累明显。其主要特征包括皮肤、毛发和眼睑异常,其中眼睑异常可导致严重的眼部症状。本报告描述了一名因巴伯-赛综合征继发有症状性角膜暴露的患者,该患者从手术干预中获益。患者接受了双侧面部中部提升、眼睑复位与重建、肉毒杆菌毒素注射以及脱细胞真皮移植。手术探查发现了此前该疾病未描述过的眼睑内外解剖结构功能障碍特征。面部整体对称性和外观有改善。此外,患者表示干眼症状和暴露性角膜病变缓解后舒适度增加。

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.TWIST2碱性结构域中的复发性突变导致无睑大口畸形和巴伯-赛综合征。
Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.