Gulcan Y H, Duman N, Kumral A, Lebe B, Kavukçu S, Erçal D, Celiloğlu M, Ozkan H
Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye.
Genet Couns. 2001;12(3):263-7.
Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebrorenal syndrome or so called Goldston syndrome is presented. Besides the rarity of this syndrome, this case is the second reported patient diagnosed prenatally.
脑肝肾畸形是一种罕见的家族性疾病,其特征为典型的肾脏病变合并丹迪-沃克畸形和先天性肝纤维化。在本病例报告中,介绍了一名诊断为脑肾综合征或所谓戈德斯顿综合征的男性早产儿。除了该综合征的罕见性之外,此病例是第二例产前诊断的患者。