de Chadarévian J P, Kaplan P, Vekemans M, Kaplan B S
Department of Pathology, Montreal Children's Hospital, Quebec, Canada.
Am J Med Genet Suppl. 1987;3:323-8. doi: 10.1002/ajmg.1320280538.
A consanguinous couple had a healthy boy and 2 children, a girl and a boy, with distal renal tubular acidosis and sensory nerve deafness. In addition, the girl had congenital glaucoma and malformation of the iris; the boy developed Wilms tumor and insulin-dependent diabetes mellitus. The possible significance of these associations is discussed.
一对近亲结婚的夫妇育有一个健康的男孩以及两个患有远端肾小管酸中毒和感觉神经性耳聋的孩子，一女一男。此外，女孩患有先天性青光眼和虹膜畸形；男孩患了肾母细胞瘤和胰岛素依赖型糖尿病。本文讨论了这些关联可能具有的意义。
