Abstract：
Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormalities. Mutations in the PAX2 gene, which plays a critical role in embryogenesis, cause this syndrome. Other related anomalies are less commonly observed. To our knowledge, this is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features.
摘要：
乳头状肾综合征,也被称为肾缺损综合征，以先天性视盘异常和肾脏异常为特征。PAX2基因突变，在胚胎发育中起着至关重要的作用，导致这种综合症。其他相关的异常不太常见。据我们所知,这是文献中报道的首例伴有各种畸形特征的乳头状肾综合征。
