Abstract：
The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.
摘要：
大多数持续性增生性原发性vítreous（PHPV）病例是单侧和零星的，然而,双侧表现可能存在于少数患者中，必须排除其他遗传疾病。我们描述了一例2个月的儿童，经超声证实双侧持续性原发性增生。此外,神经发育缺陷，小头畸形,面部二象性,轴向低张力,核磁共振没有大脑异常，在遗传研究中发现了CTNNB1基因的从头突变，这解释了这些发现。
