Stewart F J, Carson D J, Thomas P S, Humphreys M, Thornton C, Nevin N C
Department of Medical Genetics, Belfast City Hospital, UK.
Clin Genet. 1996 Mar;49(3):152-5. doi: 10.1111/j.1399-0004.1996.tb03275.x.
Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. We describe an affected girl who had recurrent episodes of hepatic failure for which no obvious cause was found. Post-mortem examination revealed abnormal pancreatic histology and congenital abnormalities of the central nervous and cardio-respiratory systems which have not been previously described in this condition. She also demonstrated a deletion at 15q 11-12 in 65% of her cells.
沃尔科特-拉利森综合征是一种罕见的常染色体隐性疾病，于1972年首次被描述。其特征为婴儿早期出现的糖尿病和多发性骨骺发育异常。我们报告了一名患病女孩，她反复出现肝功能衰竭，但未发现明显病因。尸检显示胰腺组织学异常以及中枢神经和心肺系统的先天性异常，这些异常在此疾病中此前未见报道。她还在65%的细胞中表现出15q 11 - 12处的缺失。
