线状皮脂腺痣综合征的眼部表现
Ocular findings in linear sebaceous naevus syndrome.
作者信息
Insler M S, Davlin L
出版信息
Br J Ophthalmol. 1987 Apr;71(4):268-72. doi: 10.1136/bjo.71.4.268.
Abstract
The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the naevus, bilateral hearing loss, asymmetrical skull bones, ventricular septal defect, epidermal inclusion cyst, and developmental delay without seizures.
摘要
本文报告了一名5个月大的黑人女童病例，该女童患有线性皮脂腺痣综合征及多种先天性异常。眼部畸形包括眼睑和视网膜的缺损性改变、结膜皮样瘤、脉络膜视网膜改变以及视神经乳头周围萎缩。全身检查结果包括继发腭中线裂并伴有痣累及、双侧听力丧失、颅骨不对称、室间隔缺损、表皮样囊肿以及发育迟缓但无癫痫发作。
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