脑积水、无脑回畸形、假性脑膨出、视网膜发育异常和前房异常。
Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.
作者信息
Winter R M, Garner A
出版信息
J Med Genet. 1981 Aug;18(4):314-7. doi: 10.1136/jmg.18.4.314.
Abstract
An infant presenting with hydrocephalus, pseudoencephalocele, agyria, and ocular defects, consisting of anterior chamber anomalies and retinal dysplasia, is reported. This is thought to be a further case of an autosomal recessive syndrome of which six cases have been previously described.
摘要
报告了一名患有脑积水、假性脑膨出、无脑回畸形以及眼部缺陷（包括前房异常和视网膜发育不良）的婴儿。这被认为是常染色体隐性综合征的又一例病例，此前已描述过6例。
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