伴有黄斑下类玻璃膜疣沉积物的IX型口面指综合征

Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit.

作者信息

You Jong In, Bang Seul Ki, Yu Seung-Young, Jin Kyung Hyun

机构信息

Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea.

出版信息

J Pediatr Genet. 2020 Dec;9(4):289-292. doi: 10.1055/s-0039-1700973. Epub 2020 Jan 21.

DOI:10.1055/s-0039-1700973

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7396469/

Abstract

We describe a patient with oral-facial-digital syndrome (OFDS) with the following anomalies: cleft lip, cleft palate, micrognathia, hypertelorism, nasal septum deviation, thumb polydactyly in the right hand, and partial agenesis of the corpus callosum. In addition, the patient had optic disc coloboma in the left eye and subfoveal drusenoid deposit in the right eye, features of OFDS type IX. Subfoveal drusenoid deposit has not been previously reported in OFDS type IX. Evaluation of the fundus is necessary for diagnosis of OFDS.

摘要

我们描述了一名患有口面指综合征（OFDS）的患者，其具有以下异常情况：唇裂、腭裂、小颌畸形、眼距过宽、鼻中隔偏曲、右手拇指多指畸形以及胼胝体部分发育不全。此外，该患者左眼存在视盘缺损，右眼存在黄斑下类玻璃膜疣沉积物，这是IX型OFDS的特征。黄斑下类玻璃膜疣沉积物此前在IX型OFDS中尚未有报道。眼底评估对于OFDS的诊断是必要的。

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Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.一名患有丹迪-沃克畸形的患者出现IX型口面指综合征。

J Med Genet. 1998 Apr;35(4):342-4. doi: 10.1136/jmg.35.4.342.

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Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.伴有视网膜异常的口面指综合征：IX型口面指综合征。另一病例报告。

Am J Med Genet. 1994 Jul 1;51(3):228-31. doi: 10.1002/ajmg.1320510311.

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