Abstract：
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent-shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.
摘要：
6p25缺失综合征是一种罕见的遗传性疾病，其特征是广泛的先天性异常。眼科异常似乎与该综合征高度相关，尽管迄今为止这种关系还没有得到很好的描述。我们进行了系统的文献综述，以突出该缺失综合征患者的眼部特征，并描述了一名7个月大的女性，该女性具有6.07MB6p25.1p25.3缺失和4.25MB17q25.3重复。我们的病人出现了多种先天性异常,包括大头畸形,额前带，低耳朵，帐篷状的嘴巴,马鞍鼻子，平坦的中间面，和听力障碍。她的眼科特征包括眼球突出，向下倾斜的睑裂,超端粒,眼球震颤,双侧后胚胎毒素，和形状异常的瞳孔。对已发表的具有足够临床眼部描述的病例进行了系统回顾，其中包括63例确诊为6p25缺失的病例。观察到的最常见的眼部发现是后胚毒素，虹膜发育不全,阴形目,角膜混浊,和青光眼。
