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先天性副睑裂——德尔曼综合征谱系的补充

Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.

作者信息

Manudhane Aditi, Arora Ritu, Kapoor Seema, Rastogi Anju, Goyal Jawahar Lal

机构信息

Department of Ophthalmology, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

出版信息

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):109-11. doi: 10.3109/13816810.2012.729645. Epub 2012 Dec 6.

Abstract

Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly - an accessory palpebral aperture, not reported so far to the best of our knowledge.

摘要

德勒曼综合征(眼脑皮肤综合征,MIM 164180)的特征为眼眶囊肿、小眼畸形/无眼畸形、局限性皮肤缺损、皮肤附属器及多种脑畸形。我们在此描述一例8个月大的男童,其特征提示为德勒曼综合征,同时伴有一种罕见的先天性眼睑异常——副睑裂孔,据我们所知,此前尚无相关报道。

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