上肢异常与肾脏疾病。
Upper limb anomalies and renal disease.
作者信息
Siegler R L, Larsen P, Buehler B A
出版信息
Clin Genet. 1980 Feb;17(2):117-9. doi: 10.1111/j.1399-0004.1980.tb00118.x.
Abstract
Two brothers with upper limb and renal anomalies have been identified. Their upper limb abnormalities were characterized by absence and hypoplasia of various bones; their renal anomalies included crossed-fused ectopia and vesico-ureteral reflux. Both suffered from chronic kidney failure secondary to reflux nephropathy. An autosomal or sex-linked mode of inheritance seems likely.
摘要
已发现两兄弟存在上肢和肾脏异常。他们的上肢异常表现为多种骨骼的缺如和发育不全；肾脏异常包括交叉融合异位和膀胱输尿管反流。两人均患有反流性肾病继发的慢性肾衰竭。似乎可能是常染色体或性连锁遗传模式。
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