Sassani J W
Am J Ophthalmol. 1977 Jan;83(1):43-8. doi: 10.1016/0002-9394(77)90189-1.
A full-term, 2,828-g male infant who lived five weeks had histologically proven, bilateral, congenital anophthalmos. The infant had multiple congenital anomalies including esophageal atresia, choanal stenosis, tetralogy of Fallot, persistent left superior vena cava, arhinencephaly, retardation of myelination in the brain, cerebellar sclerosis, and dysplasias, as well as other developmental anomalies of the central nervous system. There was no family history of anophthalmos, and, in view of the arhinencephaly, we diagnosed sporadic secondary anophthalmos.
一名足月出生、体重2828克的男婴存活了五周,经组织学证实患有双侧先天性无眼球症。该婴儿有多种先天性异常,包括食管闭锁、后鼻孔狭窄、法洛四联症、永存左上腔静脉、无脑回畸形、脑髓鞘形成延迟、小脑硬化和发育异常,以及中枢神经系统的其他发育异常。无眼球症无家族病史,鉴于无脑回畸形,我们诊断为散发性继发性无眼球症。