脑-眼-面-骨骼综合征

Ann Ophthalmol. 1987 Feb;19(2):54-5.

A three-month-old infant was referred with bilateral corneal opacities and microphthalmos. Pediatric examination as well as genetics consultation resulted in a diagnosis of the cerebro-oculo-facio-skeletal syndrome and should be included in the differential diagnosis of congenital cloudy corneas.

一名三个月大的婴儿因双眼角膜混浊和小眼球前来就诊。儿科检查以及遗传学咨询结果诊断为脑-眼-面-骨骼综合征，先天性混浊角膜的鉴别诊断应包括该疾病。