You Jong In, Bang Seul Ki, Yu Seung-Young, Jin Kyung Hyun
Department of Ophthalmology, College of Medicine, Kyung Hee University, Kyung Hee University, Kyung Hee University Hospital, Seoul, Korea.
J Pediatr Genet. 2020 Dec;9(4):289-292. doi: 10.1055/s-0039-1700973. Epub 2020 Jan 21.
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.
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。
